Canonical Allele Identifier: CA221900
Gene: DBT HGNC NCBI

Linked Data

ClinVar Variation Id: 94009
dbSNP Id: rs74103423

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100216085C>A , CM000663.2:g.100216085C>A GRCh38
NC_000001.10:g.100681641C>A , CM000663.1:g.100681641C>A GRCh37
NC_000001.9:g.100454229C>A NCBI36
NG_011852.2:g.38769G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681617.1:c.670G>T ENSP00000505544.1:p.Glu224Ter
ENST00000681780.1:c.127G>T ENSP00000505780.1:p.Glu43Ter
ENST00000370131.3:c.670G>T ENSP00000359150.3:p.Glu224Ter
ENST00000370132.8:c.670G>T MANE Select ENSP00000359151.3:p.Glu224Ter
NM_001918.3:c.670G>T NP_001909.3:p.Glu224Ter
XM_005270545.2:c.127G>T XP_005270602.1:p.Glu43Ter
XM_005270546.2:c.127G>T XP_005270603.1:p.Glu43Ter
XR_946560.1:n.690G>T
XM_005270545.4:c.127G>T XP_005270602.1:p.Glu43Ter
XM_017000468.2:c.127G>T XP_016855957.1:p.Glu43Ter
XM_017000469.2:c.127G>T XP_016855958.1:p.Glu43Ter
XR_946560.3:n.687G>T
NM_001918.4:c.670G>T NP_001909.3:p.Glu224Ter
NM_001918.5:c.670G>T MANE Select NP_001909.4:p.Glu224Ter
NM_001399969.1:c.127G>T NP_001386898.1:p.Glu43Ter
NM_001399972.1:c.127G>T NP_001386901.1:p.Glu43Ter
NR_174363.1:n.502G>T
NR_174364.1:n.684G>T
NR_174365.1:n.570-1102G>T
NR_174366.1:n.684G>T