Canonical Allele Identifier: CA320831
Gene: ALDH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214113
ClinVar RCV Id: RCV000196411
dbSNP Id: rs201458895
gnomAD v2: 9-38396509-T-C
gnomAD v3: 9-38396512-T-C
gnomAD v4: 9-38396512-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396512T>C , CM000671.2:g.38396512T>C GRCh38
NC_000009.11:g.38396509T>C , CM000671.1:g.38396509T>C GRCh37
NC_000009.10:g.38386509T>C NCBI36
NG_012253.1:g.8808T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000377698.4:c.764T>C MANE Select ENSP00000366927.3:p.Val255Ala
ENST00000377698.3:c.764T>C ENSP00000366927.3:p.Val255Ala
NM_000692.4:c.764T>C NP_000683.3:p.Val255Ala
XM_011517802.1:c.764T>C XP_011516104.1:p.Val255Ala
XM_011517802.2:c.764T>C XP_011516104.1:p.Val255Ala
NM_000692.5:c.764T>C MANE Select NP_000683.3:p.Val255Ala