Canonical Allele Identifier: CA969646

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214884C>T , CM000663.2:g.100214884C>T	GRCh38
NC_000001.10:g.100680440C>T , CM000663.1:g.100680440C>T	GRCh37
NC_000001.9:g.100453028C>T	NCBI36
NG_011852.2:g.39970G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001918.5:c.872G>A MANE Select	NP_001909.4:p.Arg291Gln
ENST00000370132.8:c.872G>A MANE Select	ENSP00000359151.3:p.Arg291Gln
NM_001399969.1:c.329G>A	NP_001386898.1:p.Arg110Gln
NM_001399972.1:c.329G>A	NP_001386901.1:p.Arg110Gln
NM_001918.3:c.872G>A	NP_001909.3:p.Arg291Gln
NM_001918.4:c.872G>A	NP_001909.3:p.Arg291Gln
NR_174363.1:n.704G>A
NR_174364.1:n.886G>A
NR_174365.1:n.669G>A
NR_174366.1:n.886G>A
ENST00000370131.3:c.872G>A	ENSP00000359150.3:p.Arg291Gln
ENST00000681617.1:c.872G>A	ENSP00000505544.1:p.Arg291Gln
ENST00000681780.1:c.329G>A	ENSP00000505780.1:p.Arg110Gln
XM_005270545.2:c.329G>A	XP_005270602.1:p.Arg110Gln
XM_005270545.4:c.329G>A	XP_005270602.1:p.Arg110Gln
XM_005270546.2:c.329G>A	XP_005270603.1:p.Arg110Gln
XM_017000468.2:c.329G>A	XP_016855957.1:p.Arg110Gln
XM_017000469.2:c.329G>A	XP_016855958.1:p.Arg110Gln
XR_946560.1:n.892G>A
XR_946560.3:n.889G>A