Canonical Allele Identifier: CA379093243

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775090G>C (hg19) ; chr11:g.1753860G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753860G>C , CM000673.2:g.1753860G>C	GRCh38
NC_000011.9:g.1775090G>C , CM000673.1:g.1775090G>C	GRCh37
NC_000011.8:g.1731666G>C	NCBI36
NG_008655.1:g.15133C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1014C>G MANE Select	ENSP00000236671.2:p.Ile338Met
ENST00000367196.4:c.909C>G	ENSP00000356164.4:p.Ile303Met
ENST00000427721.3:c.439C>G
ENST00000429746.2:c.909C>G	ENSP00000402586.2:p.Ile303Met
ENST00000433655.6:c.*180C>G	ENSP00000404902.1:n.*180C>G
ENST00000438213.6:c.1131C>G	ENSP00000415036.2:p.Ile377Met
ENST00000497544.3:n.722C>G
ENST00000636397.1:c.1014C>G	ENSP00000489910.1:p.Ile338Met
ENST00000636571.1:c.993C>G	ENSP00000490770.1:p.Ile331Met
ENST00000636579.1:c.15C>G	ENSP00000490489.1:p.Ile5Met
ENST00000636615.1:c.1014C>G	ENSP00000490014.1:p.Ile338Met
ENST00000636843.1:c.1008C>G	ENSP00000490897.1:p.Ile336Met
ENST00000637158.1:n.612C>G
ENST00000637381.2:n.3442C>G
ENST00000637387.1:c.993C>G	ENSP00000490598.1:p.Ile331Met
ENST00000637815.2:c.996C>G	ENSP00000490344.1:p.Ile332Met
ENST00000637915.1:c.1014C>G	ENSP00000490471.1:p.Ile338Met
ENST00000637937.1:n.322C>G
ENST00000678991.1:c.*875C>G	ENSP00000503019.1:n.*875C>G
ENST00000236671.6:c.1014C>G	ENSP00000236671.2:p.Ile338Met
ENST00000427721.2:c.414C>G	ENSP00000415840.2:p.Ile138Met
ENST00000429746.1:c.345C>G	ENSP00000402586.1:p.Ile115Met
ENST00000433655.5:c.*180C>G	ENSP00000404902.1:n.*180C>G
ENST00000497544.1:n.722C>G
NM_001909.4:c.1014C>G	NP_001900.1:p.Ile338Met
NM_001909.5:c.1014C>G MANE Select	NP_001900.1:p.Ile338Met