Canonical Allele Identifier: CA5064066
Gene: ALDH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2375236
ClinVar RCV Id: RCV003013003
dbSNP Id: rs137880021
ExAC: 9:38396913 C / T
gnomAD v2: 9-38396913-C-T
gnomAD v3: 9-38396916-C-T
gnomAD v4: 9-38396916-C-T
MyVariant Identifiers: chr9:g.38396913C>T (hg19) chr9:g.38396916C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396916C>T , CM000671.2:g.38396916C>T GRCh38
NC_000009.11:g.38396913C>T , CM000671.1:g.38396913C>T GRCh37
NC_000009.10:g.38386913C>T NCBI36
NG_012253.1:g.9212C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1168C>T MANE Select ENSP00000366927.3:p.Arg390Cys
ENST00000377698.3:c.1168C>T ENSP00000366927.3:p.Arg390Cys
NM_000692.4:c.1168C>T NP_000683.3:p.Arg390Cys
XM_011517802.1:c.1168C>T XP_011516104.1:p.Arg390Cys
XM_011517802.2:c.1168C>T XP_011516104.1:p.Arg390Cys
NM_000692.5:c.1168C>T MANE Select NP_000683.3:p.Arg390Cys
Search 100 bp 5'
Search 100 bp 3'