Canonical Allele Identifier: CA1144233031

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100196413G= , CM000663.2:g.100196413G=	GRCh38
NC_000001.10:g.100661969G= , CM000663.1:g.100661969G=	GRCh37
NC_000001.9:g.100434557G=	NCBI36
NG_011852.2:g.58441C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.1417C=	ENSP00000505544.1:p.Arg473=
ENST00000681780.1:c.748C=	ENSP00000505780.1:p.Arg250=
ENST00000370132.8:c.1291C= MANE Select	ENSP00000359151.3:p.Arg431=
NM_001918.3:c.1291C=	NP_001909.3:p.Arg431=
XM_005270545.2:c.748C=	XP_005270602.1:p.Arg250=
XM_005270546.2:c.748C=	XP_005270603.1:p.Arg250=
XM_005270545.4:c.748C=	XP_005270602.1:p.Arg250=
XM_017000468.2:c.748C=	XP_016855957.1:p.Arg250=
XM_017000469.2:c.748C=	XP_016855958.1:p.Arg250=
NM_001918.4:c.1291C=	NP_001909.3:p.Arg431=
NM_001918.5:c.1291C= MANE Select	NP_001909.4:p.Arg431=
NM_001399969.1:c.748C=	NP_001386898.1:p.Arg250=
NM_001399972.1:c.748C=	NP_001386901.1:p.Arg250=
NR_174363.1:n.1123C=
NR_174364.1:n.1464C=
NR_174365.1:n.1088C=
NR_174366.1:n.1390C=