Canonical Allele Identifier: CA5064017
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs373133752
ExAC: 9:38396699 C / G
gnomAD v2: 9-38396699-C-G
gnomAD v3: 9-38396702-C-G
gnomAD v4: 9-38396702-C-G
MyVariant Identifiers: chr9:g.38396699C>G (hg19) chr9:g.38396702C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396702C>G , CM000671.2:g.38396702C>G GRCh38
NC_000009.11:g.38396699C>G , CM000671.1:g.38396699C>G GRCh37
NC_000009.10:g.38386699C>G NCBI36
NG_012253.1:g.8998C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.954C>G MANE Select ENSP00000366927.3:p.Cys318Trp
ENST00000377698.3:c.954C>G ENSP00000366927.3:p.Cys318Trp
NM_000692.4:c.954C>G NP_000683.3:p.Cys318Trp
XM_011517802.1:c.954C>G XP_011516104.1:p.Cys318Trp
XM_011517802.2:c.954C>G XP_011516104.1:p.Cys318Trp
NM_000692.5:c.954C>G MANE Select NP_000683.3:p.Cys318Trp
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