Canonical Allele Identifier: CA147537
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 94013
dbSNP Id: rs145674833

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100240860A>G , CM000663.2:g.100240860A>G GRCh38
NC_000001.10:g.100706416A>G , CM000663.1:g.100706416A>G GRCh37
NC_000001.9:g.100479004A>G NCBI36
NG_011852.2:g.13994T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000681617.1:c.76T>C ENSP00000505544.1:p.Cys26Arg
ENST00000681780.1:c.-468T>C ENSP00000505780.1:p.=
ENST00000370131.3:n.76T>C ENSP00000359150.3:p.Cys26Arg
ENST00000370132.8:c.76T>C MANE Select ENSP00000359151.3:p.Cys26Arg
NM_001918.3:c.76T>C NP_001909.3:p.Cys26Arg
XM_005270545.2:c.-468T>C XP_005270602.1:p.=
XR_946560.1:n.96T>C
XM_005270545.4:c.-468T>C XP_005270602.1:p.=
XM_017000468.2:c.-468T>C XP_016855957.1:p.=
XR_946560.3:n.93T>C
NM_001918.4:c.76T>C NP_001909.3:p.Cys26Arg
NM_001918.5:c.76T>C MANE Select NP_001909.4:p.Cys26Arg