Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76076943G>A , CM000679.2:g.76076943G>A | GRCh38 |
| NC_000017.10:g.74073024G>A , CM000679.1:g.74073024G>A | GRCh37 |
| NC_000017.9:g.71584619G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329003.4:c.676G>A (GALR2) MANE Select | ENSP00000329684.3:p.Gly226Ser | |
| ENST00000329003.3:c.676G>A (GALR2) | ENSP00000329684.3:p.Gly226Ser | |
| ENST00000591500.1:n.217-2496G>A (ZACN) | ||
| NM_003857.3:c.676G>A (GALR2) | NP_003848.1:p.Gly226Ser | |
| XM_011525427.1:c.505G>A (GALR2) | XP_011523729.1:p.Gly169Ser | |
| XM_011525427.3:c.505G>A (GALR2) | XP_011523729.1:p.Gly169Ser | |
| NM_003857.4:c.676G>A (GALR2) MANE Select | NP_003848.1:p.Gly226Ser |