Canonical Allele Identifier: CA1143490662

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100216030G= , CM000663.2:g.100216030G=	GRCh38
NC_000001.10:g.100681586G= , CM000663.1:g.100681586G=	GRCh37
NC_000001.9:g.100454174G=	NCBI36
NG_011852.2:g.38824C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.725C=	ENSP00000505544.1:p.Ser242=
ENST00000681780.1:c.182C=	ENSP00000505780.1:p.Ser61=
ENST00000370131.3:c.725C=	ENSP00000359150.3:p.Ser242=
ENST00000370132.8:c.725C= MANE Select	ENSP00000359151.3:p.Ser242=
NM_001918.3:c.725C=	NP_001909.3:p.Ser242=
XM_005270545.2:c.182C=	XP_005270602.1:p.Ser61=
XM_005270546.2:c.182C=	XP_005270603.1:p.Ser61=
XR_946560.1:n.745C=
XM_005270545.4:c.182C=	XP_005270602.1:p.Ser61=
XM_017000468.2:c.182C=	XP_016855957.1:p.Ser61=
XM_017000469.2:c.182C=	XP_016855958.1:p.Ser61=
XR_946560.3:n.742C=
NM_001918.4:c.725C=	NP_001909.3:p.Ser242=
NM_001918.5:c.725C= MANE Select	NP_001909.4:p.Ser242=
NM_001399969.1:c.182C=	NP_001386898.1:p.Ser61=
NM_001399972.1:c.182C=	NP_001386901.1:p.Ser61=
NR_174363.1:n.557C=
NR_174364.1:n.739C=
NR_174365.1:n.570-1047C=
NR_174366.1:n.739C=