Canonical Allele Identifier: CA5064014
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs763183448
ExAC: 9:38396681 C / T
gnomAD v2: 9-38396681-C-T
gnomAD v4: 9-38396684-C-T
MyVariant Identifiers: chr9:g.38396681C>T (hg19) chr9:g.38396684C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396684C>T , CM000671.2:g.38396684C>T GRCh38
NC_000009.11:g.38396681C>T , CM000671.1:g.38396681C>T GRCh37
NC_000009.10:g.38386681C>T NCBI36
NG_012253.1:g.8980C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.936C>T MANE Select ENSP00000366927.3:p.Phe312=
ENST00000377698.3:c.936C>T ENSP00000366927.3:p.Phe312=
NM_000692.4:c.936C>T NP_000683.3:p.Phe312=
XM_011517802.1:c.936C>T XP_011516104.1:p.Phe312=
XM_011517802.2:c.936C>T XP_011516104.1:p.Phe312=
NM_000692.5:c.936C>T MANE Select NP_000683.3:p.Phe312=
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