Canonical Allele Identifier: CA121797
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 11943
dbSNP Id: rs121964999

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100214929A>C , CM000663.2:g.100214929A>C GRCh38
NC_000001.10:g.100680485A>C , CM000663.1:g.100680485A>C GRCh37
NC_000001.9:g.100453073A>C NCBI36
NG_011852.2:g.39925T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000681617.1:c.827T>G ENSP00000505544.1:p.Phe276Cys
ENST00000681780.1:c.284T>G ENSP00000505780.1:p.Phe95Cys
ENST00000370131.3:c.827T>G ENSP00000359150.3:p.Phe276Cys
ENST00000370132.8:c.827T>G MANE Select ENSP00000359151.3:p.Phe276Cys
NM_001918.3:c.827T>G NP_001909.3:p.Phe276Cys
XM_005270545.2:c.284T>G XP_005270602.1:p.Phe95Cys
XM_005270546.2:c.284T>G XP_005270603.1:p.Phe95Cys
XR_946560.1:n.847T>G
XM_005270545.4:c.284T>G XP_005270602.1:p.Phe95Cys
XM_017000468.2:c.284T>G XP_016855957.1:p.Phe95Cys
XM_017000469.2:c.284T>G XP_016855958.1:p.Phe95Cys
XR_946560.3:n.844T>G
NM_001918.4:c.827T>G NP_001909.3:p.Phe276Cys
NM_001918.5:c.827T>G MANE Select NP_001909.4:p.Phe276Cys
NM_001399969.1:c.284T>G NP_001386898.1:p.Phe95Cys
NM_001399972.1:c.284T>G NP_001386901.1:p.Phe95Cys
NR_174363.1:n.659T>G
NR_174364.1:n.841T>G
NR_174365.1:n.624T>G
NR_174366.1:n.841T>G