Canonical Allele Identifier: CA419101400

Gene: DBT

Linked Data

• MyVariant Identifiers: chr1:g.100680469C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214913C>T , CM000663.2:g.100214913C>T	GRCh38
NC_000001.10:g.100680469C>T , CM000663.1:g.100680469C>T	GRCh37
NC_000001.9:g.100453057C>T	NCBI36
NG_011852.2:g.39941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.843G>A	ENSP00000505544.1:p.Glu281=
ENST00000681780.1:c.300G>A	ENSP00000505780.1:p.Glu100=
ENST00000370131.3:c.843G>A	ENSP00000359150.3:p.Glu281=
ENST00000370132.8:c.843G>A MANE Select	ENSP00000359151.3:p.Glu281=
NM_001918.3:c.843G>A	NP_001909.3:p.Glu281=
XM_005270545.2:c.300G>A	XP_005270602.1:p.Glu100=
XM_005270546.2:c.300G>A	XP_005270603.1:p.Glu100=
XR_946560.1:n.863G>A
XM_005270545.4:c.300G>A	XP_005270602.1:p.Glu100=
XM_017000468.2:c.300G>A	XP_016855957.1:p.Glu100=
XM_017000469.2:c.300G>A	XP_016855958.1:p.Glu100=
XR_946560.3:n.860G>A
NM_001918.4:c.843G>A	NP_001909.3:p.Glu281=
NM_001918.5:c.843G>A MANE Select	NP_001909.4:p.Glu281=
NM_001399969.1:c.300G>A	NP_001386898.1:p.Glu100=
NM_001399972.1:c.300G>A	NP_001386901.1:p.Glu100=
NR_174363.1:n.675G>A
NR_174364.1:n.857G>A
NR_174365.1:n.640G>A
NR_174366.1:n.857G>A