Canonical Allele Identifier: CA339144991
Community Standard Title: NM_205861.3(DHDDS):c.658-2A>G
Gene: DHDDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26460035A>G , CM000663.2:g.26460035A>G GRCh38
NC_000001.10:g.26786526A>G , CM000663.1:g.26786526A>G GRCh37
NC_000001.9:g.26659113A>G NCBI36
NG_029786.1:g.32754A>G

Transcript Alleles

HGVS Amino-acid Change
NM_205861.3:c.658-2A>G MANE Select NP_995583.1:n.658-2A>G
ENST00000236342.12:c.658-2A>G MANE Select ENSP00000236342.7:n.658-2A>G
NM_001243564.1:c.556-2A>G NP_001230493.1:n.556-2A>G
NM_001243564.2:c.556-2A>G NP_001230493.1:n.556-2A>G
NM_001243565.1:c.541-2A>G NP_001230494.1:n.541-2A>G
NM_001243565.2:c.541-2A>G NP_001230494.1:n.541-2A>G
NM_001319959.1:c.379-2A>G NP_001306888.1:n.379-2A>G
NM_001319959.2:c.379-2A>G NP_001306888.1:n.379-2A>G
NM_024887.3:c.658-2A>G NP_079163.2:n.658-2A>G
NM_024887.4:c.658-2A>G NP_079163.2:n.658-2A>G
NM_205861.2:c.658-2A>G NP_995583.1:n.658-2A>G
ENST00000236342.11:c.658-2A>G ENSP00000236342.7:n.658-2A>G
ENST00000360009.6:c.658-2A>G ENSP00000353104.2:n.658-2A>G
ENST00000416052.1:c.287-2A>G
ENST00000430232.5:c.541-2A>G ENSP00000397584.1:n.541-2A>G
ENST00000431933.5:c.270+2130A>G ENSP00000399781.1:n.270+2130A>G
ENST00000434391.6:c.*459-2A>G ENSP00000403529.2:n.*459-2A>G
ENST00000525682.6:c.556-2A>G ENSP00000434984.1:n.556-2A>G
ENST00000526219.5:c.541-2A>G ENSP00000434219.1:n.541-2A>G
ENST00000528557.6:c.658-2A>G ENSP00000515248.1:n.658-2A>G
ENST00000703198.1:c.657+2130A>G ENSP00000515227.1:n.657+2130A>G
ENST00000703199.1:c.439-2A>G ENSP00000515228.1:n.439-2A>G
ENST00000703200.1:c.*416-2A>G ENSP00000515229.1:n.*416-2A>G
ENST00000703201.1:c.*1604-2A>G ENSP00000515230.1:n.*1604-2A>G
ENST00000703202.1:c.514-2A>G ENSP00000515231.1:n.514-2A>G
ENST00000703203.1:c.*1604-2A>G ENSP00000515232.1:n.*1604-2A>G
ENST00000703262.1:c.658-2A>G ENSP00000515247.1:n.658-2A>G
ENST00000703263.1:c.*189-2A>G ENSP00000515249.1:n.*189-2A>G
ENST00000703264.1:n.986-2A>G
XM_006710912.1:c.658-2A>G XP_006710975.1:n.658-2A>G
XM_006710913.1:c.658-2A>G XP_006710976.1:n.658-2A>G
XM_006710914.1:c.658-2A>G XP_006710977.1:n.658-2A>G
XM_006710915.1:c.556-2A>G XP_006710978.1:n.556-2A>G
XM_006710916.1:c.379-2A>G XP_006710979.1:n.379-2A>G
XM_006710917.1:c.379-2A>G XP_006710980.1:n.379-2A>G
XM_006710918.1:c.379-2A>G XP_006710981.1:n.379-2A>G
XM_006710919.1:c.379-2A>G XP_006710982.1:n.379-2A>G
XM_011542183.1:c.658-2A>G XP_011540485.1:n.658-2A>G
XM_011542184.1:c.658-2A>G XP_011540486.1:n.658-2A>G
XM_011542185.1:c.556-2A>G XP_011540487.1:n.556-2A>G
XM_011542186.1:c.556-2A>G XP_011540488.1:n.556-2A>G