Canonical Allele Identifier: CA969477

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100196412C>G , CM000663.2:g.100196412C>G	GRCh38
NC_000001.10:g.100661968C>G , CM000663.1:g.100661968C>G	GRCh37
NC_000001.9:g.100434556C>G	NCBI36
NG_011852.2:g.58442G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001918.5:c.1292G>C MANE Select	NP_001909.4:p.Arg431Pro
ENST00000370132.8:c.1292G>C MANE Select	ENSP00000359151.3:p.Arg431Pro
NM_001399969.1:c.749G>C	NP_001386898.1:p.Arg250Pro
NM_001399972.1:c.749G>C	NP_001386901.1:p.Arg250Pro
NM_001918.3:c.1292G>C	NP_001909.3:p.Arg431Pro
NM_001918.4:c.1292G>C	NP_001909.3:p.Arg431Pro
NR_174363.1:n.1124G>C
NR_174364.1:n.1465G>C
NR_174365.1:n.1089G>C
NR_174366.1:n.1391G>C
ENST00000681617.1:c.1418G>C	ENSP00000505544.1:p.Arg473Pro
ENST00000681780.1:c.749G>C	ENSP00000505780.1:p.Arg250Pro
XM_005270545.2:c.749G>C	XP_005270602.1:p.Arg250Pro
XM_005270545.4:c.749G>C	XP_005270602.1:p.Arg250Pro
XM_005270546.2:c.749G>C	XP_005270603.1:p.Arg250Pro
XM_017000468.2:c.749G>C	XP_016855957.1:p.Arg250Pro
XM_017000469.2:c.749G>C	XP_016855958.1:p.Arg250Pro