Canonical Allele Identifier: CA379093136

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775064T>G (hg19) ; chr11:g.1753834T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753834T>G , CM000673.2:g.1753834T>G	GRCh38
NC_000011.9:g.1775064T>G , CM000673.1:g.1775064T>G	GRCh37
NC_000011.8:g.1731640T>G	NCBI36
NG_008655.1:g.15159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1040A>C MANE Select	ENSP00000236671.2:p.Tyr347Ser
ENST00000367196.4:c.935A>C	ENSP00000356164.4:p.Tyr312Ser
ENST00000427721.3:c.465A>C
ENST00000429746.2:c.935A>C	ENSP00000402586.2:p.Tyr312Ser
ENST00000433655.6:c.*206A>C	ENSP00000404902.1:n.*206A>C
ENST00000438213.6:c.1157A>C	ENSP00000415036.2:p.Tyr386Ser
ENST00000497544.3:n.748A>C
ENST00000636397.1:c.1040A>C	ENSP00000489910.1:p.Tyr347Ser
ENST00000636571.1:c.1019A>C	ENSP00000490770.1:p.Tyr340Ser
ENST00000636579.1:c.41A>C	ENSP00000490489.1:p.Tyr14Ser
ENST00000636615.1:c.1040A>C	ENSP00000490014.1:p.Tyr347Ser
ENST00000636843.1:c.1034A>C	ENSP00000490897.1:p.Tyr345Ser
ENST00000637158.1:n.638A>C
ENST00000637381.2:n.3468A>C
ENST00000637387.1:c.1019A>C	ENSP00000490598.1:p.Tyr340Ser
ENST00000637815.2:c.1022A>C	ENSP00000490344.1:p.Tyr341Ser
ENST00000637915.1:c.1040A>C	ENSP00000490471.1:p.Tyr347Ser
ENST00000637937.1:n.348A>C
ENST00000678991.1:c.*901A>C	ENSP00000503019.1:n.*901A>C
ENST00000236671.6:c.1040A>C	ENSP00000236671.2:p.Tyr347Ser
ENST00000427721.2:c.440A>C	ENSP00000415840.2:p.Tyr147Ser
ENST00000429746.1:c.371A>C	ENSP00000402586.1:p.Tyr124Ser
ENST00000433655.5:c.*206A>C	ENSP00000404902.1:n.*206A>C
ENST00000497544.1:n.748A>C
NM_001909.4:c.1040A>C	NP_001900.1:p.Tyr347Ser
NM_001909.5:c.1040A>C MANE Select	NP_001900.1:p.Tyr347Ser