Canonical Allele Identifier: CA465127614
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1252834501
gnomAD v2: 9-38396741-C-T
gnomAD v3: 9-38396744-C-T
gnomAD v4: 9-38396744-C-T
MyVariant Identifiers: chr9:g.38396741C>T (hg19) chr9:g.38396744C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396744C>T , CM000671.2:g.38396744C>T GRCh38
NC_000009.11:g.38396741C>T , CM000671.1:g.38396741C>T GRCh37
NC_000009.10:g.38386741C>T NCBI36
NG_012253.1:g.9040C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.996C>T MANE Select ENSP00000366927.3:p.Tyr332=
ENST00000377698.3:c.996C>T ENSP00000366927.3:p.Tyr332=
NM_000692.4:c.996C>T NP_000683.3:p.Tyr332=
XM_011517802.1:c.996C>T XP_011516104.1:p.Tyr332=
XM_011517802.2:c.996C>T XP_011516104.1:p.Tyr332=
NM_000692.5:c.996C>T MANE Select NP_000683.3:p.Tyr332=
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