Canonical Allele Identifier: CA969461

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100196320G>A , CM000663.2:g.100196320G>A	GRCh38
NC_000001.10:g.100661876G>A , CM000663.1:g.100661876G>A	GRCh37
NC_000001.9:g.100434464G>A	NCBI36
NG_011852.2:g.58534C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001918.5:c.1384C>T MANE Select	NP_001909.4:p.Arg462Cys
ENST00000370132.8:c.1384C>T MANE Select	ENSP00000359151.3:p.Arg462Cys
NM_001399969.1:c.841C>T	NP_001386898.1:p.Arg281Cys
NM_001399972.1:c.841C>T	NP_001386901.1:p.Arg281Cys
NM_001918.3:c.1384C>T	NP_001909.3:p.Arg462Cys
NM_001918.4:c.1384C>T	NP_001909.3:p.Arg462Cys
NR_174363.1:n.1216C>T
NR_174364.1:n.1557C>T
NR_174365.1:n.1181C>T
NR_174366.1:n.1483C>T
ENST00000681617.1:c.1510C>T	ENSP00000505544.1:p.Arg504Cys
ENST00000681780.1:c.841C>T	ENSP00000505780.1:p.Arg281Cys
XM_005270545.2:c.841C>T	XP_005270602.1:p.Arg281Cys
XM_005270545.4:c.841C>T	XP_005270602.1:p.Arg281Cys
XM_005270546.2:c.841C>T	XP_005270603.1:p.Arg281Cys
XM_017000468.2:c.841C>T	XP_016855957.1:p.Arg281Cys
XM_017000469.2:c.841C>T	XP_016855958.1:p.Arg281Cys