Canonical Allele Identifier: CA1140870841
Gene: DBT HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000681617.1:c.670G= ENSP00000505544.1:p.Glu224=
ENST00000681780.1:c.127G= ENSP00000505780.1:p.Glu43=
ENST00000370131.3:c.670G= ENSP00000359150.3:p.Glu224=
ENST00000370132.8:c.670G= MANE Select ENSP00000359151.3:p.Glu224=
NM_001918.3:c.670G= NP_001909.3:p.Glu224=
XM_005270545.2:c.127G= XP_005270602.1:p.Glu43=
XM_005270546.2:c.127G= XP_005270603.1:p.Glu43=
XR_946560.1:n.690G=
XM_005270545.4:c.127G= XP_005270602.1:p.Glu43=
XM_017000468.2:c.127G= XP_016855957.1:p.Glu43=
XM_017000469.2:c.127G= XP_016855958.1:p.Glu43=
XR_946560.3:n.687G=
NM_001918.4:c.670G= NP_001909.3:p.Glu224=
NM_001918.5:c.670G= MANE Select NP_001909.4:p.Glu224=
NM_001399969.1:c.127G= NP_001386898.1:p.Glu43=
NM_001399972.1:c.127G= NP_001386901.1:p.Glu43=
NR_174363.1:n.502G=
NR_174364.1:n.684G=
NR_174365.1:n.570-1102G=
NR_174366.1:n.684G=