Canonical Allele Identifier: CA325473
Gene: ALDH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217512
ClinVar RCV Id: RCV000201514
dbSNP Id: rs796888788
ExAC: 9:38396320 AG / A
gnomAD v2: 9-38396320-AG-A
gnomAD v3: 9-38396323-AG-A
gnomAD v4: 9-38396323-AG-A
MyVariant Identifiers: chr9:g.38396323del (hg19) chr9:g.38396321del (hg19) chr9:g.38396326del (hg38) chr9:g.38396325del (hg38) chr9:g.38396324del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396326del , CM000671.2:g.38396326del GRCh38
NC_000009.11:g.38396323del , CM000671.1:g.38396323del GRCh37
NC_000009.10:g.38386323del NCBI36
NG_012253.1:g.8622del

Transcript Alleles

HGVS Amino-acid change
ENST00000377698.4:c.578del MANE Select ENSP00000366927.3:p.Gly193ValfsTer16
ENST00000377698.3:c.578del ENSP00000366927.3:p.Gly193ValfsTer16
NM_000692.4:c.578del NP_000683.3:p.Gly193ValfsTer16
XM_011517802.1:c.578del XP_011516104.1:p.Gly193ValfsTer16
XM_011517802.2:c.578del XP_011516104.1:p.Gly193ValfsTer16
NM_000692.5:c.578del MANE Select NP_000683.3:p.Gly193ValfsTer16
Search 100 bp 5'
Search 100 bp 3'