Canonical Allele Identifier: CA1184068092

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100230742C= , CM000663.2:g.100230742C=	GRCh38
NC_000001.10:g.100696298C= , CM000663.1:g.100696298C=	GRCh37
NC_000001.9:g.100468886C=	NCBI36
NG_011852.2:g.24112G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.424G=	ENSP00000505544.1:p.Ala142=
ENST00000681780.1:c.-120G=	ENSP00000505780.1:n.-120G=
ENST00000370131.3:c.424G=	ENSP00000359150.3:p.Ala142=
ENST00000370132.8:c.424G= MANE Select	ENSP00000359151.3:p.Ala142=
NM_001918.3:c.424G=	NP_001909.3:p.Ala142=
XM_005270545.2:c.-120G=	XP_005270602.1:n.-120G=
XM_005270546.2:c.-111+4694G=	XP_005270603.1:n.-111+4694G=
XR_946560.1:n.444G=
XM_005270545.4:c.-120G=	XP_005270602.1:n.-120G=
XM_017000468.2:c.-120G=	XP_016855957.1:n.-120G=
XM_017000469.2:c.-111+4694G=	XP_016855958.1:n.-111+4694G=
XR_946560.3:n.441G=
NM_001918.4:c.424G=	NP_001909.3:p.Ala142=
NM_001918.5:c.424G= MANE Select	NP_001909.4:p.Ala142=
NM_001399969.1:c.-120G=	NP_001386898.1:n.-120G=
NM_001399972.1:c.-120G=	NP_001386901.1:n.-120G=
NR_174363.1:n.265+4694G=
NR_174364.1:n.438G=
NR_174365.1:n.438G=
NR_174366.1:n.438G=