Canonical Allele Identifier: CA7191173

Gene: DDHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53062980G>A , CM000676.2:g.53062980G>A	GRCh38
NC_000014.8:g.53529698G>A , CM000676.1:g.53529698G>A	GRCh37
NC_000014.7:g.52599448G>A	NCBI36
NG_042832.1:g.95349C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001160148.2:c.1729C>T MANE Select	NP_001153620.1:p.Arg577Ter
ENST00000673822.2:c.1729C>T MANE Select	ENSP00000500986.2:p.Arg577Ter
NM_001160147.1:c.1750C>T	NP_001153619.1:p.Arg584Ter
NM_001160147.2:c.1750C>T	NP_001153619.1:p.Arg584Ter
NM_001160148.1:c.1729C>T	NP_001153620.1:p.Arg577Ter
NM_030637.2:c.1729C>T	NP_085140.2:p.Arg577Ter
NM_030637.3:c.1729C>T	NP_085140.2:p.Arg577Ter
ENST00000323669.10:c.1138C>T	ENSP00000327104.6:p.Arg380Ter
ENST00000323669.9:c.1729C>T	ENSP00000327104.5:p.Arg577Ter
ENST00000357758.3:c.1729C>T	ENSP00000350401.3:p.Arg577Ter
ENST00000395606.5:c.1750C>T	ENSP00000378970.1:p.Arg584Ter
ENST00000556027.5:n.2320C>T
ENST00000612692.4:c.1342C>T	ENSP00000483405.1:p.Arg448Ter
ENST00000673827.1:n.1405C>T
ENST00000673930.1:c.1267C>T	ENSP00000501087.1:p.Arg423Ter
ENST00000674014.1:c.1073C>T
ENST00000674152.1:c.507C>T
XM_005268102.1:c.1831C>T	XP_005268159.1:p.Arg611Ter
XM_005268102.3:c.1831C>T	XP_005268159.1:p.Arg611Ter
XM_005268103.1:c.1750C>T	XP_005268160.1:p.Arg584Ter
XM_005268103.3:c.1750C>T	XP_005268160.1:p.Arg584Ter
XM_005268105.1:c.1600C>T	XP_005268162.1:p.Arg534Ter
XM_005268105.3:c.1600C>T	XP_005268162.1:p.Arg534Ter
XM_011537188.1:c.1852C>T	XP_011535490.1:p.Arg618Ter
XM_011537188.3:c.1852C>T	XP_011535490.1:p.Arg618Ter
XM_011537189.1:c.1852C>T	XP_011535491.1:p.Arg618Ter
XM_011537189.3:c.1852C>T	XP_011535491.1:p.Arg618Ter
XM_017021668.2:c.1831C>T	XP_016877157.1:p.Arg611Ter
XM_017021669.2:c.1600C>T	XP_016877158.1:p.Arg534Ter