Canonical Allele Identifier: CA5064009
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs768934547
ExAC: 9:38396666 C / A
gnomAD v2: 9-38396666-C-A
gnomAD v4: 9-38396669-C-A
MyVariant Identifiers: chr9:g.38396666C>A (hg19) chr9:g.38396669C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396669C>A , CM000671.2:g.38396669C>A GRCh38
NC_000009.11:g.38396666C>A , CM000671.1:g.38396666C>A GRCh37
NC_000009.10:g.38386666C>A NCBI36
NG_012253.1:g.8965C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.921C>A MANE Select ENSP00000366927.3:p.Cys307Ter
ENST00000377698.3:c.921C>A ENSP00000366927.3:p.Cys307Ter
NM_000692.4:c.921C>A NP_000683.3:p.Cys307Ter
XM_011517802.1:c.921C>A XP_011516104.1:p.Cys307Ter
XM_011517802.2:c.921C>A XP_011516104.1:p.Cys307Ter
NM_000692.5:c.921C>A MANE Select NP_000683.3:p.Cys307Ter
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