Canonical Allele Identifier: CA3478931

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141528817C>T , CM000667.2:g.141528817C>T	GRCh38
NC_000005.9:g.140908384C>T , CM000667.1:g.140908384C>T	GRCh37
NC_000005.8:g.140888568C>T	NCBI36
NG_011594.1:g.95239G>A
NG_011594.2:g.95239G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005219.5:c.2903G>A MANE Select	NP_005210.3:p.Arg968His
ENST00000389054.8:c.2903G>A MANE Select	ENSP00000373706.4:p.Arg968His
NM_001079812.2:c.2876G>A	NP_001073280.1:p.Arg959His
NM_001079812.3:c.2876G>A	NP_001073280.1:p.Arg959His
NM_001314007.1:c.2903G>A	NP_001300936.1:p.Arg968His
NM_001314007.2:c.2903G>A	NP_001300936.1:p.Arg968His
NM_005219.4:c.2903G>A	NP_005210.3:p.Arg968His
ENST00000253811.10:c.2771G>A	ENSP00000253811.7:p.Arg924His
ENST00000389054.7:c.2903G>A	ENSP00000373706.4:p.Arg968His
ENST00000389057.9:c.2876G>A	ENSP00000373709.6:p.Arg959His
ENST00000398557.8:c.2903G>A	ENSP00000381565.5:p.Arg968His
ENST00000491754.5:n.403G>A
ENST00000494967.5:n.476G>A
ENST00000518047.5:c.2876G>A	ENSP00000428268.2:p.Arg959His
ENST00000518484.1:n.529G>A
ENST00000647433.1:c.2903G>A	ENSP00000494675.1:p.Arg968His
XM_011537572.1:c.2867G>A	XP_011535874.1:p.Arg956His
XM_011537573.1:c.2837G>A	XP_011535875.1:p.Arg946His
XM_024454384.1:c.2903G>A	XP_024310152.1:p.Arg968His
XM_024454385.1:c.2876G>A	XP_024310153.1:p.Arg959His
XM_024454386.1:c.2867G>A	XP_024310154.1:p.Arg956His
XM_024454387.1:c.2837G>A	XP_024310155.1:p.Arg946His