Canonical Allele Identifier: CA3479685

Gene: DIAPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141588219C>G , CM000667.2:g.141588219C>G	GRCh38
NC_000005.9:g.140967786C>G , CM000667.1:g.140967786C>G	GRCh37
NC_000005.8:g.140947970C>G	NCBI36
NG_011594.1:g.35837G>C
NG_011594.2:g.35837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.144+5G>C MANE Select	ENSP00000373706.4:n.144+5G>C
ENST00000647433.1:c.144+5G>C	ENSP00000494675.1:n.144+5G>C
ENST00000253811.10:c.12+5G>C	ENSP00000253811.7:n.12+5G>C
ENST00000389054.7:c.144+5G>C	ENSP00000373706.4:n.144+5G>C
ENST00000389057.9:c.118-1022G>C	ENSP00000373709.6:n.118-1022G>C
ENST00000398557.8:c.144+5G>C	ENSP00000381565.5:n.144+5G>C
ENST00000518047.5:c.118-1022G>C	ENSP00000428268.2:n.118-1022G>C
ENST00000523100.5:c.144+5G>C	ENSP00000428208.1:n.144+5G>C
NM_001079812.2:c.118-1022G>C	NP_001073280.1:n.118-1022G>C
NM_001314007.1:c.144+5G>C	NP_001300936.1:n.144+5G>C
NM_005219.4:c.144+5G>C	NP_005210.3:n.144+5G>C
XM_011537573.1:c.78+5G>C	XP_011535875.1:n.78+5G>C
XM_024454384.1:c.144+5G>C	XP_024310152.1:n.144+5G>C
XM_024454385.1:c.118-1022G>C	XP_024310153.1:n.118-1022G>C
XM_024454387.1:c.78+5G>C	XP_024310155.1:n.78+5G>C
NM_005219.5:c.144+5G>C MANE Select	NP_005210.3:n.144+5G>C
NM_001079812.3:c.118-1022G>C	NP_001073280.1:n.118-1022G>C
NM_001314007.2:c.144+5G>C	NP_001300936.1:n.144+5G>C