Canonical Allele Identifier: CA472140944

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774898C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753668C>A , CM000673.2:g.1753668C>A	GRCh38
NC_000011.9:g.1774898C>A , CM000673.1:g.1774898C>A	GRCh37
NC_000011.8:g.1731474C>A	NCBI36
NG_008655.1:g.15325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1074G>T MANE Select	ENSP00000236671.2:p.Val358=
ENST00000367196.4:c.969G>T	ENSP00000356164.4:p.Val323=
ENST00000427721.3:c.499G>T
ENST00000429746.2:c.969G>T	ENSP00000402586.2:p.Val323=
ENST00000433655.6:c.*240G>T	ENSP00000404902.1:n.*240G>T
ENST00000438213.6:c.1191G>T	ENSP00000415036.2:p.Val397=
ENST00000497544.3:n.782G>T
ENST00000636397.1:c.1071+135G>T	ENSP00000489910.1:n.1071+135G>T
ENST00000636571.1:c.1053G>T	ENSP00000490770.1:p.Val351=
ENST00000636579.1:c.72+135G>T	ENSP00000490489.1:n.72+135G>T
ENST00000636615.1:c.1071+135G>T	ENSP00000490014.1:n.1071+135G>T
ENST00000636843.1:c.1068G>T	ENSP00000490897.1:p.Val356=
ENST00000637158.1:n.672G>T
ENST00000637381.2:n.3502G>T
ENST00000637387.1:c.1053G>T	ENSP00000490598.1:p.Val351=
ENST00000637815.2:c.1056G>T	ENSP00000490344.1:p.Val352=
ENST00000637915.1:c.1072-7G>T	ENSP00000490471.1:n.1072-7G>T
ENST00000637937.1:n.382G>T
ENST00000678991.1:c.*935G>T	ENSP00000503019.1:n.*935G>T
ENST00000236671.6:c.1074G>T	ENSP00000236671.2:p.Val358=
ENST00000427721.2:c.471+135G>T	ENSP00000415840.2:n.471+135G>T
ENST00000429746.1:c.405G>T	ENSP00000402586.1:p.Val135=
ENST00000433655.5:c.*240G>T	ENSP00000404902.1:n.*240G>T
NM_001909.4:c.1074G>T	NP_001900.1:p.Val358=
NM_001909.5:c.1074G>T MANE Select	NP_001900.1:p.Val358=