Canonical Allele Identifier: CA705320
Community Standard Title: NM_205861.3(DHDDS):c.366C>T (p.Gly122=)
Gene: DHDDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26446358C>T , CM000663.2:g.26446358C>T GRCh38
NC_000001.10:g.26772849C>T , CM000663.1:g.26772849C>T GRCh37
NC_000001.9:g.26645436C>T NCBI36
NG_029786.1:g.19077C>T

Transcript Alleles

HGVS Amino-acid Change
NM_205861.3:c.366C>T MANE Select NP_995583.1:p.Gly122=
ENST00000236342.12:c.366C>T MANE Select ENSP00000236342.7:p.Gly122=
NM_001243564.1:c.366C>T NP_001230493.1:p.Gly122=
NM_001243564.2:c.366C>T NP_001230493.1:p.Gly122=
NM_001243565.1:c.324-1201C>T NP_001230494.1:n.324-1201C>T
NM_001243565.2:c.324-1201C>T NP_001230494.1:n.324-1201C>T
NM_001319959.1:c.87C>T NP_001306888.1:p.Gly29=
NM_001319959.2:c.87C>T NP_001306888.1:p.Gly29=
NM_024887.3:c.366C>T NP_079163.2:p.Gly122=
NM_024887.4:c.366C>T NP_079163.2:p.Gly122=
NM_205861.2:c.366C>T NP_995583.1:p.Gly122=
ENST00000236342.11:c.366C>T ENSP00000236342.7:p.Gly122=
ENST00000360009.6:c.366C>T ENSP00000353104.2:p.Gly122=
ENST00000374185.7:c.366C>T ENSP00000363300.3:p.Gly122=
ENST00000427245.6:c.366C>T ENSP00000399177.2:p.Gly122=
ENST00000430232.5:c.324-1201C>T ENSP00000397584.1:n.324-1201C>T
ENST00000431933.5:c.81C>T ENSP00000399781.1:p.Gly27=
ENST00000434391.6:c.*167C>T ENSP00000403529.2:n.*167C>T
ENST00000436153.6:c.366C>T ENSP00000405604.2:p.Gly122=
ENST00000525165.5:c.366C>T ENSP00000434185.1:p.Gly122=
ENST00000525410.1:n.557C>T
ENST00000525682.6:c.366C>T ENSP00000434984.1:p.Gly122=
ENST00000526219.5:c.324-1201C>T ENSP00000434219.1:n.324-1201C>T
ENST00000526278.5:n.474C>T
ENST00000528557.6:c.366C>T ENSP00000515248.1:p.Gly122=
ENST00000529688.5:n.565C>T
ENST00000531312.5:c.366C>T ENSP00000436764.1:p.Gly122=
ENST00000533087.5:c.366C>T ENSP00000436119.1:p.Gly122=
ENST00000703198.1:c.366C>T ENSP00000515227.1:p.Gly122=
ENST00000703199.1:c.323+3485C>T ENSP00000515228.1:n.323+3485C>T
ENST00000703200.1:c.*124C>T ENSP00000515229.1:n.*124C>T
ENST00000703201.1:c.*1312C>T ENSP00000515230.1:n.*1312C>T
ENST00000703202.1:c.181-7123C>T ENSP00000515231.1:n.181-7123C>T
ENST00000703203.1:c.*1312C>T ENSP00000515232.1:n.*1312C>T
ENST00000703262.1:c.366C>T ENSP00000515247.1:p.Gly122=
ENST00000703263.1:c.366C>T ENSP00000515249.1:p.Gly122=
ENST00000703264.1:n.694C>T
XM_006710912.1:c.366C>T XP_006710975.1:p.Gly122=
XM_006710913.1:c.366C>T XP_006710976.1:p.Gly122=
XM_006710914.1:c.366C>T XP_006710977.1:p.Gly122=
XM_006710915.1:c.366C>T XP_006710978.1:p.Gly122=
XM_006710916.1:c.87C>T XP_006710979.1:p.Gly29=
XM_006710917.1:c.87C>T XP_006710980.1:p.Gly29=
XM_006710918.1:c.87C>T XP_006710981.1:p.Gly29=
XM_006710919.1:c.87C>T XP_006710982.1:p.Gly29=
XM_011542183.1:c.366C>T XP_011540485.1:p.Gly122=
XM_011542184.1:c.366C>T XP_011540486.1:p.Gly122=
XM_011542185.1:c.366C>T XP_011540487.1:p.Gly122=
XM_011542186.1:c.366C>T XP_011540488.1:p.Gly122=