Canonical Allele Identifier: CA389768890

Gene: DDHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53051921C>T , CM000676.2:g.53051921C>T	GRCh38
NC_000014.8:g.53518639C>T , CM000676.1:g.53518639C>T	GRCh37
NC_000014.7:g.52588389C>T	NCBI36
NG_042832.1:g.106408G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001160148.2:c.2444G>A MANE Select	NP_001153620.1:p.Arg815Lys
ENST00000673822.2:c.2444G>A MANE Select	ENSP00000500986.2:p.Arg815Lys
NM_001160147.1:c.2458+2517G>A	NP_001153619.1:n.2458+2517G>A
NM_001160147.2:c.2458+2517G>A	NP_001153619.1:n.2458+2517G>A
NM_001160148.1:c.2444G>A	NP_001153620.1:p.Arg815Lys
NM_030637.2:c.2437+2517G>A	NP_085140.2:n.2437+2517G>A
NM_030637.3:c.2437+2517G>A	NP_085140.2:n.2437+2517G>A
ENST00000323669.10:c.1846+2517G>A	ENSP00000327104.6:n.1846+2517G>A
ENST00000323669.9:c.2444G>A	ENSP00000327104.5:p.Arg815Lys
ENST00000357758.3:c.2437+2517G>A	ENSP00000350401.3:n.2437+2517G>A
ENST00000395606.5:c.2458+2517G>A	ENSP00000378970.1:n.2458+2517G>A
ENST00000555621.1:n.80+1086G>A
ENST00000556027.5:n.3028+2517G>A
ENST00000612692.4:c.2057G>A	ENSP00000483405.1:p.Arg686Lys
ENST00000673827.1:n.2113+2517G>A
ENST00000673930.1:c.1825+2517G>A	ENSP00000501087.1:n.1825+2517G>A
ENST00000674014.1:c.1781+2517G>A
ENST00000674152.1:c.1215+2517G>A
XM_005268102.1:c.2546G>A	XP_005268159.1:p.Arg849Lys
XM_005268102.3:c.2546G>A	XP_005268159.1:p.Arg849Lys
XM_005268103.1:c.2465G>A	XP_005268160.1:p.Arg822Lys
XM_005268103.3:c.2465G>A	XP_005268160.1:p.Arg822Lys
XM_005268105.1:c.2315G>A	XP_005268162.1:p.Arg772Lys
XM_005268105.3:c.2315G>A	XP_005268162.1:p.Arg772Lys
XM_011537188.1:c.2567G>A	XP_011535490.1:p.Arg856Lys
XM_011537188.3:c.2567G>A	XP_011535490.1:p.Arg856Lys
XM_011537189.1:c.2560+2517G>A	XP_011535491.1:n.2560+2517G>A
XM_011537189.3:c.2560+2517G>A	XP_011535491.1:n.2560+2517G>A
XM_017021668.2:c.2539+2517G>A	XP_016877157.1:n.2539+2517G>A
XM_017021669.2:c.2308+2517G>A	XP_016877158.1:n.2308+2517G>A