Canonical Allele Identifier: CA486427348
Community Standard Title: NM_001160148.2(DDHD1):c.960G>A (p.Gln320=)
Gene: DDHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53103735C>T , CM000676.2:g.53103735C>T GRCh38
NC_000014.8:g.53570453C>T , CM000676.1:g.53570453C>T GRCh37
NC_000014.7:g.52640203C>T NCBI36
NG_042832.1:g.54594G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001160148.2:c.960G>A MANE Select NP_001153620.1:p.Gln320=
ENST00000673822.2:c.960G>A MANE Select ENSP00000500986.2:p.Gln320=
NM_001160147.1:c.960G>A NP_001153619.1:p.Gln320=
NM_001160147.2:c.960G>A NP_001153619.1:p.Gln320=
NM_001160148.1:c.960G>A NP_001153620.1:p.Gln320=
NM_030637.2:c.960G>A NP_085140.2:p.Gln320=
NM_030637.3:c.960G>A NP_085140.2:p.Gln320=
ENST00000323669.10:c.267G>A ENSP00000327104.6:p.Gln89=
ENST00000323669.9:c.960G>A ENSP00000327104.5:p.Gln320=
ENST00000357758.3:c.960G>A ENSP00000350401.3:p.Gln320=
ENST00000395606.5:c.960G>A ENSP00000378970.1:p.Gln320=
ENST00000556910.1:c.102G>A ENSP00000450785.1:p.Gln34=
ENST00000557445.1:n.262G>A
ENST00000612692.4:c.573G>A ENSP00000483405.1:p.Gln191=
ENST00000673827.1:n.412G>A
ENST00000673930.1:c.477G>A ENSP00000501087.1:p.Gln159=
ENST00000674014.1:c.245G>A
ENST00000674152.1:c.122G>A
XM_005268102.1:c.960G>A XP_005268159.1:p.Gln320=
XM_005268102.3:c.960G>A XP_005268159.1:p.Gln320=
XM_005268103.1:c.960G>A XP_005268160.1:p.Gln320=
XM_005268103.3:c.960G>A XP_005268160.1:p.Gln320=
XM_005268105.1:c.960G>A XP_005268162.1:p.Gln320=
XM_005268105.3:c.960G>A XP_005268162.1:p.Gln320=
XM_011537188.1:c.960G>A XP_011535490.1:p.Gln320=
XM_011537188.3:c.960G>A XP_011535490.1:p.Gln320=
XM_011537189.1:c.960G>A XP_011535491.1:p.Gln320=
XM_011537189.3:c.960G>A XP_011535491.1:p.Gln320=
XM_017021668.2:c.960G>A XP_016877157.1:p.Gln320=
XM_017021669.2:c.960G>A XP_016877158.1:p.Gln320=