Canonical Allele Identifier: CA379093405

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775127A>C (hg19) ; chr11:g.1753897A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753897A>C , CM000673.2:g.1753897A>C	GRCh38
NC_000011.9:g.1775127A>C , CM000673.1:g.1775127A>C	GRCh37
NC_000011.8:g.1731703A>C	NCBI36
NG_008655.1:g.15096T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.977T>G MANE Select	ENSP00000236671.2:p.Met326Arg
ENST00000367196.4:c.872T>G	ENSP00000356164.4:p.Met291Arg
ENST00000427721.3:c.402T>G
ENST00000429746.2:c.872T>G	ENSP00000402586.2:p.Met291Arg
ENST00000433655.6:c.*143T>G	ENSP00000404902.1:n.*143T>G
ENST00000438213.6:c.1094T>G	ENSP00000415036.2:p.Met365Arg
ENST00000497544.3:n.685T>G
ENST00000636397.1:c.977T>G	ENSP00000489910.1:p.Met326Arg
ENST00000636571.1:c.956T>G	ENSP00000490770.1:p.Met319Arg
ENST00000636615.1:c.977T>G	ENSP00000490014.1:p.Met326Arg
ENST00000636843.1:c.971T>G	ENSP00000490897.1:p.Met324Arg
ENST00000637158.1:n.575T>G
ENST00000637381.2:n.3405T>G
ENST00000637387.1:c.973-17T>G	ENSP00000490598.1:n.973-17T>G
ENST00000637815.2:c.959T>G	ENSP00000490344.1:p.Met320Arg
ENST00000637915.1:c.977T>G	ENSP00000490471.1:p.Met326Arg
ENST00000637937.1:n.285T>G
ENST00000678991.1:c.*838T>G	ENSP00000503019.1:n.*838T>G
ENST00000236671.6:c.977T>G	ENSP00000236671.2:p.Met326Arg
ENST00000427721.2:c.377T>G	ENSP00000415840.2:p.Met126Arg
ENST00000429746.1:c.308T>G	ENSP00000402586.1:p.Met103Arg
ENST00000433655.5:c.*143T>G	ENSP00000404902.1:n.*143T>G
ENST00000497544.1:n.685T>G
NM_001909.4:c.977T>G	NP_001900.1:p.Met326Arg
NM_001909.5:c.977T>G MANE Select	NP_001900.1:p.Met326Arg