Canonical Allele Identifier: CA7191375

Gene: DDHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53103754T>C , CM000676.2:g.53103754T>C	GRCh38
NC_000014.8:g.53570472T>C , CM000676.1:g.53570472T>C	GRCh37
NC_000014.7:g.52640222T>C	NCBI36
NG_042832.1:g.54575A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001160148.2:c.941A>G MANE Select	NP_001153620.1:p.Asn314Ser
ENST00000673822.2:c.941A>G MANE Select	ENSP00000500986.2:p.Asn314Ser
NM_001160147.1:c.941A>G	NP_001153619.1:p.Asn314Ser
NM_001160147.2:c.941A>G	NP_001153619.1:p.Asn314Ser
NM_001160148.1:c.941A>G	NP_001153620.1:p.Asn314Ser
NM_030637.2:c.941A>G	NP_085140.2:p.Asn314Ser
NM_030637.3:c.941A>G	NP_085140.2:p.Asn314Ser
ENST00000323669.10:c.248A>G	ENSP00000327104.6:p.Asn83Ser
ENST00000323669.9:c.941A>G	ENSP00000327104.5:p.Asn314Ser
ENST00000357758.3:c.941A>G	ENSP00000350401.3:p.Asn314Ser
ENST00000395606.5:c.941A>G	ENSP00000378970.1:p.Asn314Ser
ENST00000556910.1:c.83A>G	ENSP00000450785.1:p.Asn28Ser
ENST00000557445.1:n.243A>G
ENST00000612692.4:c.554A>G	ENSP00000483405.1:p.Asn185Ser
ENST00000673827.1:n.393A>G
ENST00000673930.1:c.458A>G	ENSP00000501087.1:p.Asn153Ser
ENST00000674014.1:c.226A>G
ENST00000674152.1:c.103A>G
XM_005268102.1:c.941A>G	XP_005268159.1:p.Asn314Ser
XM_005268102.3:c.941A>G	XP_005268159.1:p.Asn314Ser
XM_005268103.1:c.941A>G	XP_005268160.1:p.Asn314Ser
XM_005268103.3:c.941A>G	XP_005268160.1:p.Asn314Ser
XM_005268105.1:c.941A>G	XP_005268162.1:p.Asn314Ser
XM_005268105.3:c.941A>G	XP_005268162.1:p.Asn314Ser
XM_011537188.1:c.941A>G	XP_011535490.1:p.Asn314Ser
XM_011537188.3:c.941A>G	XP_011535490.1:p.Asn314Ser
XM_011537189.1:c.941A>G	XP_011535491.1:p.Asn314Ser
XM_011537189.3:c.941A>G	XP_011535491.1:p.Asn314Ser
XM_017021668.2:c.941A>G	XP_016877157.1:p.Asn314Ser
XM_017021669.2:c.941A>G	XP_016877158.1:p.Asn314Ser