Canonical Allele Identifier: CA341335030

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100210750G>A , CM000663.2:g.100210750G>A	GRCh38
NC_000001.10:g.100676306G>A , CM000663.1:g.100676306G>A	GRCh37
NC_000001.9:g.100448894G>A	NCBI36
NG_011852.2:g.44104C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001918.5:c.961C>T MANE Select	NP_001909.4:p.Gln321Ter
ENST00000370132.8:c.961C>T MANE Select	ENSP00000359151.3:p.Gln321Ter
NM_001399969.1:c.418C>T	NP_001386898.1:p.Gln140Ter
NM_001399972.1:c.418C>T	NP_001386901.1:p.Gln140Ter
NM_001918.3:c.961C>T	NP_001909.3:p.Gln321Ter
NM_001918.4:c.961C>T	NP_001909.3:p.Gln321Ter
NR_174363.1:n.793C>T
NR_174364.1:n.975C>T
NR_174365.1:n.758C>T
NR_174366.1:n.1060C>T
ENST00000370131.3:c.1314C>T	ENSP00000359150.3:n.1314C>T
ENST00000681617.1:c.1087C>T	ENSP00000505544.1:p.Gln363Ter
ENST00000681780.1:c.418C>T	ENSP00000505780.1:p.Gln140Ter
XM_005270545.2:c.418C>T	XP_005270602.1:p.Gln140Ter
XM_005270545.4:c.418C>T	XP_005270602.1:p.Gln140Ter
XM_005270546.2:c.418C>T	XP_005270603.1:p.Gln140Ter
XM_017000468.2:c.418C>T	XP_016855957.1:p.Gln140Ter
XM_017000469.2:c.418C>T	XP_016855958.1:p.Gln140Ter
XR_946560.1:n.1066C>T
XR_946560.3:n.1063C>T