Canonical Allele Identifier: CA5064085
Gene: ALDH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2528953
ClinVar RCV Id: RCV004301258
dbSNP Id: rs567543628
ExAC: 9:38396961 G / A
gnomAD v2: 9-38396961-G-A
gnomAD v3: 9-38396964-G-A
gnomAD v4: 9-38396964-G-A
MyVariant Identifiers: chr9:g.38396961G>A (hg19) chr9:g.38396964G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396964G>A , CM000671.2:g.38396964G>A GRCh38
NC_000009.11:g.38396961G>A , CM000671.1:g.38396961G>A GRCh37
NC_000009.10:g.38386961G>A NCBI36
NG_012253.1:g.9260G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1216G>A MANE Select ENSP00000366927.3:p.Val406Met
ENST00000377698.3:c.1216G>A ENSP00000366927.3:p.Val406Met
NM_000692.4:c.1216G>A NP_000683.3:p.Val406Met
XM_011517802.1:c.1216G>A XP_011516104.1:p.Val406Met
XM_011517802.2:c.1216G>A XP_011516104.1:p.Val406Met
NM_000692.5:c.1216G>A MANE Select NP_000683.3:p.Val406Met
Search 100 bp 5'
Search 100 bp 3'