Canonical Allele Identifier: CA10609810
Gene: DHDDS HGNC NCBI

Linked Data

ClinVar Variation Id: 297070
ClinVar RCV Id: RCV000361588
dbSNP Id: rs115681222
gnomAD v2: 1-26758804-G-A
gnomAD v3: 1-26432313-G-A
gnomAD v4: 1-26432313-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26432313G>A , CM000663.2:g.26432313G>A GRCh38
NC_000001.10:g.26758804G>A , CM000663.1:g.26758804G>A GRCh37
NC_000001.9:g.26631391G>A NCBI36
NG_029786.1:g.5032G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434391.6:c.-119G>A ENSP00000403529.2:n.-119G>A
NM_001243564.1:c.-119G>A NP_001230493.1:n.-119G>A
NM_001243565.1:c.-119G>A NP_001230494.1:n.-119G>A
NM_024887.3:c.-119G>A NP_079163.2:n.-119G>A
NM_205861.2:c.-119G>A NP_995583.1:n.-119G>A
XM_006710915.1:c.-119G>A XP_006710978.1:n.-119G>A
XM_006710917.1:c.-421G>A XP_006710980.1:n.-421G>A
XM_006710919.1:c.-421G>A XP_006710982.1:n.-421G>A
NM_001319959.1:c.-421G>A NP_001306888.1:n.-421G>A