Canonical Allele Identifier: CA7190917

Gene: DDHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53046803C>T , CM000676.2:g.53046803C>T	GRCh38
NC_000014.8:g.53513521C>T , CM000676.1:g.53513521C>T	GRCh37
NC_000014.7:g.52583271C>T	NCBI36
NG_042832.1:g.111526G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001160148.2:c.2668G>A MANE Select	NP_001153620.1:p.Asp890Asn
ENST00000673822.2:c.2668G>A MANE Select	ENSP00000500986.2:p.Asp890Asn
NM_001160147.1:c.2605G>A	NP_001153619.1:p.Asp869Asn
NM_001160147.2:c.2605G>A	NP_001153619.1:p.Asp869Asn
NM_001160148.1:c.2668G>A	NP_001153620.1:p.Asp890Asn
NM_030637.2:c.2584G>A	NP_085140.2:p.Asp862Asn
NM_030637.3:c.2584G>A	NP_085140.2:p.Asp862Asn
ENST00000323669.10:c.1993G>A	ENSP00000327104.6:p.Asp665Asn
ENST00000323669.9:c.2668G>A	ENSP00000327104.5:p.Asp890Asn
ENST00000357758.3:c.2584G>A	ENSP00000350401.3:p.Asp862Asn
ENST00000395606.5:c.2605G>A	ENSP00000378970.1:p.Asp869Asn
ENST00000556027.5:n.3175G>A
ENST00000612692.4:c.2281G>A	ENSP00000483405.1:p.Asp761Asn
ENST00000673827.1:n.2260G>A
ENST00000673930.1:c.1972G>A	ENSP00000501087.1:p.Asp658Asn
ENST00000674014.1:c.1928G>A
ENST00000674152.1:c.1362G>A
XM_005268102.1:c.2770G>A	XP_005268159.1:p.Asp924Asn
XM_005268102.3:c.2770G>A	XP_005268159.1:p.Asp924Asn
XM_005268103.1:c.2689G>A	XP_005268160.1:p.Asp897Asn
XM_005268103.3:c.2689G>A	XP_005268160.1:p.Asp897Asn
XM_005268105.1:c.2539G>A	XP_005268162.1:p.Asp847Asn
XM_005268105.3:c.2539G>A	XP_005268162.1:p.Asp847Asn
XM_011537188.1:c.2791G>A	XP_011535490.1:p.Asp931Asn
XM_011537188.3:c.2791G>A	XP_011535490.1:p.Asp931Asn
XM_011537189.1:c.2707G>A	XP_011535491.1:p.Asp903Asn
XM_011537189.3:c.2707G>A	XP_011535491.1:p.Asp903Asn
XM_017021668.2:c.2686G>A	XP_016877157.1:p.Asp896Asn
XM_017021669.2:c.2455G>A	XP_016877158.1:p.Asp819Asn