Canonical Allele Identifier: CA339143535

Gene: DHDDS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26447668G>T , CM000663.2:g.26447668G>T	GRCh38
NC_000001.10:g.26774159G>T , CM000663.1:g.26774159G>T	GRCh37
NC_000001.9:g.26646746G>T	NCBI36
NG_029786.1:g.20387G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_205861.3:c.542+8G>T MANE Select	NP_995583.1:n.542+8G>T
ENST00000236342.12:c.542+8G>T MANE Select	ENSP00000236342.7:n.542+8G>T
NM_001243564.1:c.440+1236G>T	NP_001230493.1:n.440+1236G>T
NM_001243564.2:c.440+1236G>T	NP_001230493.1:n.440+1236G>T
NM_001243565.1:c.425+8G>T	NP_001230494.1:n.425+8G>T
NM_001243565.2:c.425+8G>T	NP_001230494.1:n.425+8G>T
NM_001319959.1:c.263+8G>T	NP_001306888.1:n.263+8G>T
NM_001319959.2:c.263+8G>T	NP_001306888.1:n.263+8G>T
NM_024887.3:c.542+8G>T	NP_079163.2:n.542+8G>T
NM_024887.4:c.542+8G>T	NP_079163.2:n.542+8G>T
NM_205861.2:c.542+8G>T	NP_995583.1:n.542+8G>T
ENST00000236342.11:c.542+8G>T	ENSP00000236342.7:n.542+8G>T
ENST00000360009.6:c.542+8G>T	ENSP00000353104.2:n.542+8G>T
ENST00000374185.7:c.550G>T	ENSP00000363300.3:p.Glu184Ter
ENST00000416052.1:c.171+8G>T
ENST00000427245.6:c.542+8G>T	ENSP00000399177.2:n.542+8G>T
ENST00000430232.5:c.425+8G>T	ENSP00000397584.1:n.425+8G>T
ENST00000431933.5:c.155+1236G>T	ENSP00000399781.1:n.155+1236G>T
ENST00000434391.6:c.*343+8G>T	ENSP00000403529.2:n.*343+8G>T
ENST00000525682.6:c.440+1236G>T	ENSP00000434984.1:n.440+1236G>T
ENST00000526219.5:c.425+8G>T	ENSP00000434219.1:n.425+8G>T
ENST00000528557.6:c.542+8G>T	ENSP00000515248.1:n.542+8G>T
ENST00000703198.1:c.542+8G>T	ENSP00000515227.1:n.542+8G>T
ENST00000703199.1:c.323+4795G>T	ENSP00000515228.1:n.323+4795G>T
ENST00000703200.1:c.*300+8G>T	ENSP00000515229.1:n.*300+8G>T
ENST00000703201.1:c.*1488+8G>T	ENSP00000515230.1:n.*1488+8G>T
ENST00000703202.1:c.181-5813G>T	ENSP00000515231.1:n.181-5813G>T
ENST00000703203.1:c.*1488+8G>T	ENSP00000515232.1:n.*1488+8G>T
ENST00000703262.1:c.542+8G>T	ENSP00000515247.1:n.542+8G>T
ENST00000703263.1:c.542+8G>T	ENSP00000515249.1:n.542+8G>T
ENST00000703264.1:n.870+8G>T
XM_006710912.1:c.542+8G>T	XP_006710975.1:n.542+8G>T
XM_006710913.1:c.542+8G>T	XP_006710976.1:n.542+8G>T
XM_006710914.1:c.542+8G>T	XP_006710977.1:n.542+8G>T
XM_006710915.1:c.440+1236G>T	XP_006710978.1:n.440+1236G>T
XM_006710916.1:c.263+8G>T	XP_006710979.1:n.263+8G>T
XM_006710917.1:c.263+8G>T	XP_006710980.1:n.263+8G>T
XM_006710918.1:c.263+8G>T	XP_006710981.1:n.263+8G>T
XM_006710919.1:c.263+8G>T	XP_006710982.1:n.263+8G>T
XM_011542183.1:c.542+8G>T	XP_011540485.1:n.542+8G>T
XM_011542184.1:c.542+8G>T	XP_011540486.1:n.542+8G>T
XM_011542185.1:c.440+1236G>T	XP_011540487.1:n.440+1236G>T
XM_011542186.1:c.440+1236G>T	XP_011540488.1:n.440+1236G>T