Canonical Allele Identifier: CA389767285

Gene: DDHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53046809C>A , CM000676.2:g.53046809C>A	GRCh38
NC_000014.8:g.53513527C>A , CM000676.1:g.53513527C>A	GRCh37
NC_000014.7:g.52583277C>A	NCBI36
NG_042832.1:g.111520G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001160148.2:c.2662G>T MANE Select	NP_001153620.1:p.Glu888Ter
ENST00000673822.2:c.2662G>T MANE Select	ENSP00000500986.2:p.Glu888Ter
NM_001160147.1:c.2599G>T	NP_001153619.1:p.Glu867Ter
NM_001160147.2:c.2599G>T	NP_001153619.1:p.Glu867Ter
NM_001160148.1:c.2662G>T	NP_001153620.1:p.Glu888Ter
NM_030637.2:c.2578G>T	NP_085140.2:p.Glu860Ter
NM_030637.3:c.2578G>T	NP_085140.2:p.Glu860Ter
ENST00000323669.10:c.1987G>T	ENSP00000327104.6:p.Glu663Ter
ENST00000323669.9:c.2662G>T	ENSP00000327104.5:p.Glu888Ter
ENST00000357758.3:c.2578G>T	ENSP00000350401.3:p.Glu860Ter
ENST00000395606.5:c.2599G>T	ENSP00000378970.1:p.Glu867Ter
ENST00000556027.5:n.3169G>T
ENST00000612692.4:c.2275G>T	ENSP00000483405.1:p.Glu759Ter
ENST00000673827.1:n.2254G>T
ENST00000673930.1:c.1966G>T	ENSP00000501087.1:p.Glu656Ter
ENST00000674014.1:c.1922G>T
ENST00000674152.1:c.1356G>T
XM_005268102.1:c.2764G>T	XP_005268159.1:p.Glu922Ter
XM_005268102.3:c.2764G>T	XP_005268159.1:p.Glu922Ter
XM_005268103.1:c.2683G>T	XP_005268160.1:p.Glu895Ter
XM_005268103.3:c.2683G>T	XP_005268160.1:p.Glu895Ter
XM_005268105.1:c.2533G>T	XP_005268162.1:p.Glu845Ter
XM_005268105.3:c.2533G>T	XP_005268162.1:p.Glu845Ter
XM_011537188.1:c.2785G>T	XP_011535490.1:p.Glu929Ter
XM_011537188.3:c.2785G>T	XP_011535490.1:p.Glu929Ter
XM_011537189.1:c.2701G>T	XP_011535491.1:p.Glu901Ter
XM_011537189.3:c.2701G>T	XP_011535491.1:p.Glu901Ter
XM_017021668.2:c.2680G>T	XP_016877157.1:p.Glu894Ter
XM_017021669.2:c.2449G>T	XP_016877158.1:p.Glu817Ter