Canonical Allele Identifier: CA7191080

Gene: DDHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53058455A>G , CM000676.2:g.53058455A>G	GRCh38
NC_000014.8:g.53525173A>G , CM000676.1:g.53525173A>G	GRCh37
NC_000014.7:g.52594923A>G	NCBI36
NG_042832.1:g.99874T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001160148.2:c.1992+22T>C MANE Select	NP_001153620.1:n.1992+22T>C
ENST00000673822.2:c.1992+22T>C MANE Select	ENSP00000500986.2:n.1992+22T>C
NM_001160147.1:c.2013+22T>C	NP_001153619.1:n.2013+22T>C
NM_001160147.2:c.2013+22T>C	NP_001153619.1:n.2013+22T>C
NM_001160148.1:c.1992+22T>C	NP_001153620.1:n.1992+22T>C
NM_030637.2:c.1992+22T>C	NP_085140.2:n.1992+22T>C
NM_030637.3:c.1992+22T>C	NP_085140.2:n.1992+22T>C
ENST00000323669.10:c.1401+22T>C	ENSP00000327104.6:n.1401+22T>C
ENST00000323669.9:c.1992+22T>C	ENSP00000327104.5:n.1992+22T>C
ENST00000357758.3:c.1992+22T>C	ENSP00000350401.3:n.1992+22T>C
ENST00000395606.5:c.2013+22T>C	ENSP00000378970.1:n.2013+22T>C
ENST00000555400.1:n.349+22T>C
ENST00000556027.5:n.2583+22T>C
ENST00000612692.4:c.1605+22T>C	ENSP00000483405.1:n.1605+22T>C
ENST00000673827.1:n.1668+22T>C
ENST00000673930.1:c.1381-2543T>C	ENSP00000501087.1:n.1381-2543T>C
ENST00000674014.1:c.1336+22T>C
ENST00000674152.1:c.770+22T>C
XM_005268102.1:c.2094+22T>C	XP_005268159.1:n.2094+22T>C
XM_005268102.3:c.2094+22T>C	XP_005268159.1:n.2094+22T>C
XM_005268103.1:c.2013+22T>C	XP_005268160.1:n.2013+22T>C
XM_005268103.3:c.2013+22T>C	XP_005268160.1:n.2013+22T>C
XM_005268105.1:c.1863+22T>C	XP_005268162.1:n.1863+22T>C
XM_005268105.3:c.1863+22T>C	XP_005268162.1:n.1863+22T>C
XM_011537188.1:c.2115+22T>C	XP_011535490.1:n.2115+22T>C
XM_011537188.3:c.2115+22T>C	XP_011535490.1:n.2115+22T>C
XM_011537189.1:c.2115+22T>C	XP_011535491.1:n.2115+22T>C
XM_011537189.3:c.2115+22T>C	XP_011535491.1:n.2115+22T>C
XM_017021668.2:c.2094+22T>C	XP_016877157.1:n.2094+22T>C
XM_017021669.2:c.1863+22T>C	XP_016877158.1:n.1863+22T>C