Canonical Allele Identifier: CA705402
Community Standard Title: NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn)
Gene: DHDDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26457813G>A , CM000663.2:g.26457813G>A GRCh38
NC_000001.10:g.26784304G>A , CM000663.1:g.26784304G>A GRCh37
NC_000001.9:g.26656891G>A NCBI36
NG_029786.1:g.30532G>A

Transcript Alleles

HGVS Amino-acid Change
NM_205861.3:c.565G>A MANE Select NP_995583.1:p.Asp189Asn
ENST00000236342.12:c.565G>A MANE Select ENSP00000236342.7:p.Asp189Asn
NM_001243564.1:c.463G>A NP_001230493.1:p.Asp155Asn
NM_001243564.2:c.463G>A NP_001230493.1:p.Asp155Asn
NM_001243565.1:c.448G>A NP_001230494.1:p.Asp150Asn
NM_001243565.2:c.448G>A NP_001230494.1:p.Asp150Asn
NM_001319959.1:c.286G>A NP_001306888.1:p.Asp96Asn
NM_001319959.2:c.286G>A NP_001306888.1:p.Asp96Asn
NM_024887.3:c.565G>A NP_079163.2:p.Asp189Asn
NM_024887.4:c.565G>A NP_079163.2:p.Asp189Asn
NM_205861.2:c.565G>A NP_995583.1:p.Asp189Asn
ENST00000236342.11:c.565G>A ENSP00000236342.7:p.Asp189Asn
ENST00000360009.6:c.565G>A ENSP00000353104.2:p.Asp189Asn
ENST00000416052.1:c.194G>A
ENST00000430232.5:c.448G>A ENSP00000397584.1:p.Asp150Asn
ENST00000431933.5:c.178G>A ENSP00000399781.1:p.Asp60Asn
ENST00000434391.6:c.*366G>A ENSP00000403529.2:n.*366G>A
ENST00000525682.6:c.463G>A ENSP00000434984.1:p.Asp155Asn
ENST00000526219.5:c.448G>A ENSP00000434219.1:p.Asp150Asn
ENST00000528557.6:c.565G>A ENSP00000515248.1:p.Asp189Asn
ENST00000703198.1:c.565G>A ENSP00000515227.1:p.Asp189Asn
ENST00000703199.1:c.346G>A ENSP00000515228.1:p.Asp116Asn
ENST00000703200.1:c.*323G>A ENSP00000515229.1:n.*323G>A
ENST00000703201.1:c.*1511G>A ENSP00000515230.1:n.*1511G>A
ENST00000703202.1:c.421G>A ENSP00000515231.1:p.Asp141Asn
ENST00000703203.1:c.*1511G>A ENSP00000515232.1:n.*1511G>A
ENST00000703262.1:c.565G>A ENSP00000515247.1:p.Asp189Asn
ENST00000703263.1:c.*96G>A ENSP00000515249.1:n.*96G>A
ENST00000703264.1:n.893G>A
XM_006710912.1:c.565G>A XP_006710975.1:p.Asp189Asn
XM_006710913.1:c.565G>A XP_006710976.1:p.Asp189Asn
XM_006710914.1:c.565G>A XP_006710977.1:p.Asp189Asn
XM_006710915.1:c.463G>A XP_006710978.1:p.Asp155Asn
XM_006710916.1:c.286G>A XP_006710979.1:p.Asp96Asn
XM_006710917.1:c.286G>A XP_006710980.1:p.Asp96Asn
XM_006710918.1:c.286G>A XP_006710981.1:p.Asp96Asn
XM_006710919.1:c.286G>A XP_006710982.1:p.Asp96Asn
XM_011542183.1:c.565G>A XP_011540485.1:p.Asp189Asn
XM_011542184.1:c.565G>A XP_011540486.1:p.Asp189Asn
XM_011542185.1:c.463G>A XP_011540487.1:p.Asp155Asn
XM_011542186.1:c.463G>A XP_011540488.1:p.Asp155Asn