Canonical Allele Identifier: CA339145149

Gene: DHDDS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26460077C>G , CM000663.2:g.26460077C>G	GRCh38
NC_000001.10:g.26786568C>G , CM000663.1:g.26786568C>G	GRCh37
NC_000001.9:g.26659155C>G	NCBI36
NG_029786.1:g.32796C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_205861.3:c.698C>G MANE Select	NP_995583.1:p.Pro233Arg
ENST00000236342.12:c.698C>G MANE Select	ENSP00000236342.7:p.Pro233Arg
NM_001243564.1:c.596C>G	NP_001230493.1:p.Pro199Arg
NM_001243564.2:c.596C>G	NP_001230493.1:p.Pro199Arg
NM_001243565.1:c.581C>G	NP_001230494.1:p.Pro194Arg
NM_001243565.2:c.581C>G	NP_001230494.1:p.Pro194Arg
NM_001319959.1:c.419C>G	NP_001306888.1:p.Pro140Arg
NM_001319959.2:c.419C>G	NP_001306888.1:p.Pro140Arg
NM_024887.3:c.698C>G	NP_079163.2:p.Pro233Arg
NM_024887.4:c.698C>G	NP_079163.2:p.Pro233Arg
NM_205861.2:c.698C>G	NP_995583.1:p.Pro233Arg
ENST00000236342.11:c.698C>G	ENSP00000236342.7:p.Pro233Arg
ENST00000360009.6:c.698C>G	ENSP00000353104.2:p.Pro233Arg
ENST00000416052.1:c.327C>G
ENST00000430232.5:c.581C>G	ENSP00000397584.1:p.Pro194Arg
ENST00000431933.5:c.270+2172C>G	ENSP00000399781.1:n.270+2172C>G
ENST00000434391.6:c.*499C>G	ENSP00000403529.2:n.*499C>G
ENST00000525682.6:c.596C>G	ENSP00000434984.1:p.Pro199Arg
ENST00000526219.5:c.581C>G	ENSP00000434219.1:p.Pro194Arg
ENST00000528557.6:c.698C>G	ENSP00000515248.1:p.Pro233Arg
ENST00000703198.1:c.657+2172C>G	ENSP00000515227.1:n.657+2172C>G
ENST00000703199.1:c.479C>G	ENSP00000515228.1:p.Pro160Arg
ENST00000703200.1:c.*456C>G	ENSP00000515229.1:n.*456C>G
ENST00000703201.1:c.*1644C>G	ENSP00000515230.1:n.*1644C>G
ENST00000703202.1:c.554C>G	ENSP00000515231.1:p.Pro185Arg
ENST00000703203.1:c.*1644C>G	ENSP00000515232.1:n.*1644C>G
ENST00000703262.1:c.698C>G	ENSP00000515247.1:p.Pro233Arg
ENST00000703263.1:c.*229C>G	ENSP00000515249.1:n.*229C>G
ENST00000703264.1:n.1026C>G
XM_006710912.1:c.698C>G	XP_006710975.1:p.Pro233Arg
XM_006710913.1:c.698C>G	XP_006710976.1:p.Pro233Arg
XM_006710914.1:c.698C>G	XP_006710977.1:p.Pro233Arg
XM_006710915.1:c.596C>G	XP_006710978.1:p.Pro199Arg
XM_006710916.1:c.419C>G	XP_006710979.1:p.Pro140Arg
XM_006710917.1:c.419C>G	XP_006710980.1:p.Pro140Arg
XM_006710918.1:c.419C>G	XP_006710981.1:p.Pro140Arg
XM_006710919.1:c.419C>G	XP_006710982.1:p.Pro140Arg
XM_011542183.1:c.698C>G	XP_011540485.1:p.Pro233Arg
XM_011542184.1:c.698C>G	XP_011540486.1:p.Pro233Arg
XM_011542185.1:c.596C>G	XP_011540487.1:p.Pro199Arg
XM_011542186.1:c.596C>G	XP_011540488.1:p.Pro199Arg