Canonical Allele Identifier: CA5063996
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs533684701
ExAC: 9:38396604 G / A
gnomAD v2: 9-38396604-G-A
gnomAD v3: 9-38396607-G-A
gnomAD v4: 9-38396607-G-A
COSMIC: COSM3657457
MyVariant Identifiers: chr9:g.38396604G>A (hg19) chr9:g.38396607G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396607G>A , CM000671.2:g.38396607G>A GRCh38
NC_000009.11:g.38396604G>A , CM000671.1:g.38396604G>A GRCh37
NC_000009.10:g.38386604G>A NCBI36
NG_012253.1:g.8903G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.859G>A MANE Select ENSP00000366927.3:p.Gly287Ser
ENST00000377698.3:c.859G>A ENSP00000366927.3:p.Gly287Ser
NM_000692.4:c.859G>A NP_000683.3:p.Gly287Ser
XM_011517802.1:c.859G>A XP_011516104.1:p.Gly287Ser
XM_011517802.2:c.859G>A XP_011516104.1:p.Gly287Ser
NM_000692.5:c.859G>A MANE Select NP_000683.3:p.Gly287Ser
Search 100 bp 5'
Search 100 bp 3'