Canonical Allele Identifier: CA472141264

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775054G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753824G>C , CM000673.2:g.1753824G>C	GRCh38
NC_000011.9:g.1775054G>C , CM000673.1:g.1775054G>C	GRCh37
NC_000011.8:g.1731630G>C	NCBI36
NG_008655.1:g.15169C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1050C>G MANE Select	ENSP00000236671.2:p.Ser350=
ENST00000367196.4:c.945C>G	ENSP00000356164.4:p.Ser315=
ENST00000427721.3:c.475C>G
ENST00000429746.2:c.945C>G	ENSP00000402586.2:p.Ser315=
ENST00000433655.6:c.*216C>G	ENSP00000404902.1:n.*216C>G
ENST00000438213.6:c.1167C>G	ENSP00000415036.2:p.Ser389=
ENST00000497544.3:n.758C>G
ENST00000636397.1:c.1050C>G	ENSP00000489910.1:p.Ser350=
ENST00000636571.1:c.1029C>G	ENSP00000490770.1:p.Ser343=
ENST00000636579.1:c.51C>G	ENSP00000490489.1:p.Ser17=
ENST00000636615.1:c.1050C>G	ENSP00000490014.1:p.Ser350=
ENST00000636843.1:c.1044C>G	ENSP00000490897.1:p.Ser348=
ENST00000637158.1:n.648C>G
ENST00000637381.2:n.3478C>G
ENST00000637387.1:c.1029C>G	ENSP00000490598.1:p.Ser343=
ENST00000637815.2:c.1032C>G	ENSP00000490344.1:p.Ser344=
ENST00000637915.1:c.1050C>G	ENSP00000490471.1:p.Ser350=
ENST00000637937.1:n.358C>G
ENST00000678991.1:c.*911C>G	ENSP00000503019.1:n.*911C>G
ENST00000236671.6:c.1050C>G	ENSP00000236671.2:p.Ser350=
ENST00000427721.2:c.450C>G	ENSP00000415840.2:p.Ser150=
ENST00000429746.1:c.381C>G	ENSP00000402586.1:p.Ser127=
ENST00000433655.5:c.*216C>G	ENSP00000404902.1:n.*216C>G
ENST00000497544.1:n.758C>G
NM_001909.4:c.1050C>G	NP_001900.1:p.Ser350=
NM_001909.5:c.1050C>G MANE Select	NP_001900.1:p.Ser350=