Canonical Allele Identifier: CA379092721

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774874G>C (hg19) ; chr11:g.1753644G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753644G>C , CM000673.2:g.1753644G>C	GRCh38
NC_000011.9:g.1774874G>C , CM000673.1:g.1774874G>C	GRCh37
NC_000011.8:g.1731450G>C	NCBI36
NG_008655.1:g.15349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1098C>G MANE Select	ENSP00000236671.2:p.Cys366Trp
ENST00000367196.4:c.993C>G	ENSP00000356164.4:p.Cys331Trp
ENST00000427721.3:c.523C>G
ENST00000429746.2:c.993C>G	ENSP00000402586.2:p.Cys331Trp
ENST00000433655.6:c.*264C>G	ENSP00000404902.1:n.*264C>G
ENST00000438213.6:c.1215C>G	ENSP00000415036.2:p.Cys405Trp
ENST00000636397.1:c.1071+159C>G	ENSP00000489910.1:n.1071+159C>G
ENST00000636571.1:c.1077C>G	ENSP00000490770.1:p.Cys359Trp
ENST00000636579.1:c.72+159C>G	ENSP00000490489.1:n.72+159C>G
ENST00000636615.1:c.1071+159C>G	ENSP00000490014.1:n.1071+159C>G
ENST00000636843.1:c.1092C>G	ENSP00000490897.1:p.Cys364Trp
ENST00000637158.1:n.696C>G
ENST00000637381.2:n.3526C>G
ENST00000637387.1:c.1077C>G	ENSP00000490598.1:p.Cys359Trp
ENST00000637815.2:c.1080C>G	ENSP00000490344.1:p.Cys360Trp
ENST00000637915.1:c.1089C>G	ENSP00000490471.1:p.Cys363Trp
ENST00000637937.1:n.406C>G
ENST00000678991.1:c.*959C>G	ENSP00000503019.1:n.*959C>G
ENST00000236671.6:c.1098C>G	ENSP00000236671.2:p.Cys366Trp
ENST00000427721.2:c.471+159C>G	ENSP00000415840.2:n.471+159C>G
ENST00000429746.1:c.429C>G	ENSP00000402586.1:p.Cys143Trp
ENST00000433655.5:c.*264C>G	ENSP00000404902.1:n.*264C>G
NM_001909.4:c.1098C>G	NP_001900.1:p.Cys366Trp
NM_001909.5:c.1098C>G MANE Select	NP_001900.1:p.Cys366Trp