Canonical Allele Identifier: CA373513985
Gene: ALDH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3109016
ClinVar RCV Id: RCV004404883
dbSNP Id: rs1483584165
gnomAD v2: 9-38396996-C-G
gnomAD v4: 9-38396999-C-G
MyVariant Identifiers: chr9:g.38396996C>G (hg19) chr9:g.38396999C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396999C>G , CM000671.2:g.38396999C>G GRCh38
NC_000009.11:g.38396996C>G , CM000671.1:g.38396996C>G GRCh37
NC_000009.10:g.38386996C>G NCBI36
NG_012253.1:g.9295C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1251C>G MANE Select ENSP00000366927.3:p.Ile417Met
ENST00000377698.3:c.1251C>G ENSP00000366927.3:p.Ile417Met
NM_000692.4:c.1251C>G NP_000683.3:p.Ile417Met
XM_011517802.1:c.1251C>G XP_011516104.1:p.Ile417Met
XM_011517802.2:c.1251C>G XP_011516104.1:p.Ile417Met
NM_000692.5:c.1251C>G MANE Select NP_000683.3:p.Ile417Met
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