Canonical Allele Identifier: CA389767635
Community Standard Title: NM_001160148.2(DDHD1):c.2522-1G>T
Gene: DDHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53046950C>A , CM000676.2:g.53046950C>A GRCh38
NC_000014.8:g.53513668C>A , CM000676.1:g.53513668C>A GRCh37
NC_000014.7:g.52583418C>A NCBI36
NG_042832.1:g.111379G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001160148.2:c.2522-1G>T MANE Select NP_001153620.1:n.2522-1G>T
ENST00000673822.2:c.2522-1G>T MANE Select ENSP00000500986.2:n.2522-1G>T
NM_001160147.1:c.2459-1G>T NP_001153619.1:n.2459-1G>T
NM_001160147.2:c.2459-1G>T NP_001153619.1:n.2459-1G>T
NM_001160148.1:c.2522-1G>T NP_001153620.1:n.2522-1G>T
NM_030637.2:c.2438-1G>T NP_085140.2:n.2438-1G>T
NM_030637.3:c.2438-1G>T NP_085140.2:n.2438-1G>T
ENST00000323669.10:c.1847-1G>T ENSP00000327104.6:n.1847-1G>T
ENST00000323669.9:c.2522-1G>T ENSP00000327104.5:n.2522-1G>T
ENST00000357758.3:c.2438-1G>T ENSP00000350401.3:n.2438-1G>T
ENST00000395606.5:c.2459-1G>T ENSP00000378970.1:n.2459-1G>T
ENST00000556027.5:n.3029-1G>T
ENST00000612692.4:c.2135-1G>T ENSP00000483405.1:n.2135-1G>T
ENST00000673827.1:n.2114-1G>T
ENST00000673930.1:c.1826-1G>T ENSP00000501087.1:n.1826-1G>T
ENST00000674014.1:c.1782-1G>T
ENST00000674152.1:c.1216-1G>T
XM_005268102.1:c.2624-1G>T XP_005268159.1:n.2624-1G>T
XM_005268102.3:c.2624-1G>T XP_005268159.1:n.2624-1G>T
XM_005268103.1:c.2543-1G>T XP_005268160.1:n.2543-1G>T
XM_005268103.3:c.2543-1G>T XP_005268160.1:n.2543-1G>T
XM_005268105.1:c.2393-1G>T XP_005268162.1:n.2393-1G>T
XM_005268105.3:c.2393-1G>T XP_005268162.1:n.2393-1G>T
XM_011537188.1:c.2645-1G>T XP_011535490.1:n.2645-1G>T
XM_011537188.3:c.2645-1G>T XP_011535490.1:n.2645-1G>T
XM_011537189.1:c.2561-1G>T XP_011535491.1:n.2561-1G>T
XM_011537189.3:c.2561-1G>T XP_011535491.1:n.2561-1G>T
XM_017021668.2:c.2540-1G>T XP_016877157.1:n.2540-1G>T
XM_017021669.2:c.2309-1G>T XP_016877158.1:n.2309-1G>T