Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76077109C>T , CM000679.2:g.76077109C>T | GRCh38 |
| NC_000017.10:g.74073190C>T , CM000679.1:g.74073190C>T | GRCh37 |
| NC_000017.9:g.71584785C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003857.4:c.842C>T (GALR2) MANE Select | NP_003848.1:p.Ser281Phe |
| ENST00000329003.4:c.842C>T (GALR2) MANE Select | ENSP00000329684.3:p.Ser281Phe |
| NM_003857.3:c.842C>T (GALR2) | NP_003848.1:p.Ser281Phe |
| ENST00000329003.3:c.842C>T (GALR2) | ENSP00000329684.3:p.Ser281Phe |
| ENST00000591500.1:n.217-2330C>T (ZACN) | |
| XM_011525427.1:c.671C>T (GALR2) | XP_011523729.1:p.Ser224Phe |
| XM_011525427.3:c.671C>T (GALR2) | XP_011523729.1:p.Ser224Phe |