Canonical Allele Identifier: CA5064075
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs747383945
ExAC: 9:38396927 T / A
gnomAD v2: 9-38396927-T-A
gnomAD v4: 9-38396930-T-A
MyVariant Identifiers: chr9:g.38396927T>A (hg19) chr9:g.38396930T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396930T>A , CM000671.2:g.38396930T>A GRCh38
NC_000009.11:g.38396927T>A , CM000671.1:g.38396927T>A GRCh37
NC_000009.10:g.38386927T>A NCBI36
NG_012253.1:g.9226T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1182T>A MANE Select ENSP00000366927.3:p.Arg394=
ENST00000377698.3:c.1182T>A ENSP00000366927.3:p.Arg394=
NM_000692.4:c.1182T>A NP_000683.3:p.Arg394=
XM_011517802.1:c.1182T>A XP_011516104.1:p.Arg394=
XM_011517802.2:c.1182T>A XP_011516104.1:p.Arg394=
NM_000692.5:c.1182T>A MANE Select NP_000683.3:p.Arg394=
Search 100 bp 5'
Search 100 bp 3'