Canonical Allele Identifier: CA389762429

Gene: DDHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53062943C>T , CM000676.2:g.53062943C>T	GRCh38
NC_000014.8:g.53529661C>T , CM000676.1:g.53529661C>T	GRCh37
NC_000014.7:g.52599411C>T	NCBI36
NG_042832.1:g.95386G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001160148.2:c.1766G>A MANE Select	NP_001153620.1:p.Arg589Gln
ENST00000673822.2:c.1766G>A MANE Select	ENSP00000500986.2:p.Arg589Gln
NM_001160147.1:c.1787G>A	NP_001153619.1:p.Arg596Gln
NM_001160147.2:c.1787G>A	NP_001153619.1:p.Arg596Gln
NM_001160148.1:c.1766G>A	NP_001153620.1:p.Arg589Gln
NM_030637.2:c.1766G>A	NP_085140.2:p.Arg589Gln
NM_030637.3:c.1766G>A	NP_085140.2:p.Arg589Gln
ENST00000323669.10:c.1175G>A	ENSP00000327104.6:p.Arg392Gln
ENST00000323669.9:c.1766G>A	ENSP00000327104.5:p.Arg589Gln
ENST00000357758.3:c.1766G>A	ENSP00000350401.3:p.Arg589Gln
ENST00000395606.5:c.1787G>A	ENSP00000378970.1:p.Arg596Gln
ENST00000556027.5:n.2357G>A
ENST00000612692.4:c.1379G>A	ENSP00000483405.1:p.Arg460Gln
ENST00000673827.1:n.1442G>A
ENST00000673930.1:c.1304G>A	ENSP00000501087.1:p.Arg435Gln
ENST00000674014.1:c.1110G>A
ENST00000674152.1:c.544G>A
XM_005268102.1:c.1868G>A	XP_005268159.1:p.Arg623Gln
XM_005268102.3:c.1868G>A	XP_005268159.1:p.Arg623Gln
XM_005268103.1:c.1787G>A	XP_005268160.1:p.Arg596Gln
XM_005268103.3:c.1787G>A	XP_005268160.1:p.Arg596Gln
XM_005268105.1:c.1637G>A	XP_005268162.1:p.Arg546Gln
XM_005268105.3:c.1637G>A	XP_005268162.1:p.Arg546Gln
XM_011537188.1:c.1889G>A	XP_011535490.1:p.Arg630Gln
XM_011537188.3:c.1889G>A	XP_011535490.1:p.Arg630Gln
XM_011537189.1:c.1889G>A	XP_011535491.1:p.Arg630Gln
XM_011537189.3:c.1889G>A	XP_011535491.1:p.Arg630Gln
XM_017021668.2:c.1868G>A	XP_016877157.1:p.Arg623Gln
XM_017021669.2:c.1637G>A	XP_016877158.1:p.Arg546Gln