INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44380087C>G , CM000679.2:g.44380087C>G | GRCh38 |
| NC_000017.10:g.42457455C>G , CM000679.1:g.42457455C>G | GRCh37 |
| NC_000017.9:g.39812981C>G | NCBI36 |
| NG_008331.1:g.14419G>C , LRG_479:g.14419G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.1667G>C MANE Select | NP_000410.2:p.Gly556Ala |
| ENST00000262407.6:c.1667G>C MANE Select | ENSP00000262407.5:p.Gly556Ala |
| NM_000419.3:c.1667G>C , LRG_479t1:c.1667G>C | NP_000410.2:p.Gly556Ala |
| NM_000419.4:c.1667G>C | NP_000410.2:p.Gly556Ala |
| ENST00000262407.5:c.1667G>C | ENSP00000262407.5:p.Gly556Ala |
| ENST00000592226.5:n.1140G>C | |
| ENST00000592462.5:n.462G>C | |
| ENST00000648408.1:c.1098G>C | |
| XM_011524749.1:c.1667G>C | XP_011523051.1:p.Gly556Ala |
| XM_011524750.1:c.1667G>C | XP_011523052.1:p.Gly556Ala |