Canonical Allele Identifier: CA486657864
Community Standard Title: NM_001160148.2(DDHD1):c.684T>C (p.Asp228=)
Gene: DDHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53152415A>G , CM000676.2:g.53152415A>G GRCh38
NC_000014.8:g.53619133A>G , CM000676.1:g.53619133A>G GRCh37
NC_000014.7:g.52688883A>G NCBI36
NG_042832.1:g.5914T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001160148.2:c.684T>C MANE Select NP_001153620.1:p.Asp228=
ENST00000673822.2:c.684T>C MANE Select ENSP00000500986.2:p.Asp228=
NM_001160147.1:c.684T>C NP_001153619.1:p.Asp228=
NM_001160147.2:c.684T>C NP_001153619.1:p.Asp228=
NM_001160148.1:c.684T>C NP_001153620.1:p.Asp228=
NM_030637.2:c.684T>C NP_085140.2:p.Asp228=
NM_030637.3:c.684T>C NP_085140.2:p.Asp228=
ENST00000323669.9:c.684T>C ENSP00000327104.5:p.Asp228=
ENST00000357758.3:c.684T>C ENSP00000350401.3:p.Asp228=
ENST00000395606.5:c.684T>C ENSP00000378970.1:p.Asp228=
ENST00000612692.4:c.394-97T>C ENSP00000483405.1:n.394-97T>C
ENST00000673930.1:c.201T>C ENSP00000501087.1:p.Asp67=
XM_005268102.1:c.684T>C XP_005268159.1:p.Asp228=
XM_005268102.3:c.684T>C XP_005268159.1:p.Asp228=
XM_005268103.1:c.684T>C XP_005268160.1:p.Asp228=
XM_005268103.3:c.684T>C XP_005268160.1:p.Asp228=
XM_005268105.1:c.684T>C XP_005268162.1:p.Asp228=
XM_005268105.3:c.684T>C XP_005268162.1:p.Asp228=
XM_011537188.1:c.684T>C XP_011535490.1:p.Asp228=
XM_011537188.3:c.684T>C XP_011535490.1:p.Asp228=
XM_011537189.1:c.684T>C XP_011535491.1:p.Asp228=
XM_011537189.3:c.684T>C XP_011535491.1:p.Asp228=
XM_017021668.2:c.684T>C XP_016877157.1:p.Asp228=
XM_017021669.2:c.684T>C XP_016877158.1:p.Asp228=