Canonical Allele Identifier: CA341340708

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100218739C>A , CM000663.2:g.100218739C>A	GRCh38
NC_000001.10:g.100684295C>A , CM000663.1:g.100684295C>A	GRCh37
NC_000001.9:g.100456883C>A	NCBI36
NG_011852.2:g.36115G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001918.5:c.442G>T MANE Select	NP_001909.4:p.Glu148Ter
ENST00000370132.8:c.442G>T MANE Select	ENSP00000359151.3:p.Glu148Ter
NM_001399969.1:c.-102G>T	NP_001386898.1:n.-102G>T
NM_001399972.1:c.-102G>T	NP_001386901.1:n.-102G>T
NM_001918.3:c.442G>T	NP_001909.3:p.Glu148Ter
NM_001918.4:c.442G>T	NP_001909.3:p.Glu148Ter
NR_174363.1:n.274G>T
NR_174364.1:n.456G>T
NR_174365.1:n.456G>T
NR_174366.1:n.456G>T
ENST00000370131.3:c.442G>T	ENSP00000359150.3:p.Glu148Ter
ENST00000681617.1:c.442G>T	ENSP00000505544.1:p.Glu148Ter
ENST00000681780.1:c.-102G>T	ENSP00000505780.1:n.-102G>T
XM_005270545.2:c.-102G>T	XP_005270602.1:n.-102G>T
XM_005270545.4:c.-102G>T	XP_005270602.1:n.-102G>T
XM_005270546.2:c.-102G>T	XP_005270603.1:n.-102G>T
XM_017000468.2:c.-102G>T	XP_016855957.1:n.-102G>T
XM_017000469.2:c.-102G>T	XP_016855958.1:n.-102G>T
XR_946560.1:n.462G>T
XR_946560.3:n.459G>T