Canonical Allele Identifier: CA341348427

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100249791C>T , CM000663.2:g.100249791C>T	GRCh38
NC_000001.10:g.100715347C>T , CM000663.1:g.100715347C>T	GRCh37
NC_000001.9:g.100487935C>T	NCBI36
NG_011852.2:g.5063G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001918.5:c.30G>A MANE Select	NP_001909.4:p.Trp10Ter
ENST00000370132.8:c.30G>A MANE Select	ENSP00000359151.3:p.Trp10Ter
NM_001399969.1:c.-701G>A	NP_001386898.1:n.-701G>A
NM_001399972.1:c.-574G>A	NP_001386901.1:n.-574G>A
NM_001918.3:c.30G>A	NP_001909.3:p.Trp10Ter
NM_001918.4:c.30G>A	NP_001909.3:p.Trp10Ter
NR_174363.1:n.44G>A
NR_174364.1:n.44G>A
NR_174365.1:n.44G>A
NR_174366.1:n.44G>A
ENST00000370131.3:c.30G>A	ENSP00000359150.3:p.Trp10Ter
ENST00000681617.1:c.30G>A	ENSP00000505544.1:p.Trp10Ter
ENST00000681780.1:c.-701G>A	ENSP00000505780.1:n.-701G>A
XM_005270545.2:c.-701G>A	XP_005270602.1:n.-701G>A
XM_005270545.4:c.-701G>A	XP_005270602.1:n.-701G>A
XM_017000468.2:c.-761G>A	XP_016855957.1:n.-761G>A
XR_946560.1:n.50G>A
XR_946560.3:n.47G>A