Canonical Allele Identifier: CA472140430

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775105G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753875G>C , CM000673.2:g.1753875G>C	GRCh38
NC_000011.9:g.1775105G>C , CM000673.1:g.1775105G>C	GRCh37
NC_000011.8:g.1731681G>C	NCBI36
NG_008655.1:g.15118C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.999C>G MANE Select	ENSP00000236671.2:p.Ser333=
ENST00000367196.4:c.894C>G	ENSP00000356164.4:p.Ser298=
ENST00000427721.3:c.424C>G
ENST00000429746.2:c.894C>G	ENSP00000402586.2:p.Ser298=
ENST00000433655.6:c.*165C>G	ENSP00000404902.1:n.*165C>G
ENST00000438213.6:c.1116C>G	ENSP00000415036.2:p.Ser372=
ENST00000497544.3:n.707C>G
ENST00000636397.1:c.999C>G	ENSP00000489910.1:p.Ser333=
ENST00000636571.1:c.978C>G	ENSP00000490770.1:p.Ser326=
ENST00000636615.1:c.999C>G	ENSP00000490014.1:p.Ser333=
ENST00000636843.1:c.993C>G	ENSP00000490897.1:p.Ser331=
ENST00000637158.1:n.597C>G
ENST00000637381.2:n.3427C>G
ENST00000637387.1:c.978C>G	ENSP00000490598.1:p.Ser326=
ENST00000637815.2:c.981C>G	ENSP00000490344.1:p.Ser327=
ENST00000637915.1:c.999C>G	ENSP00000490471.1:p.Ser333=
ENST00000637937.1:n.307C>G
ENST00000678991.1:c.*860C>G	ENSP00000503019.1:n.*860C>G
ENST00000236671.6:c.999C>G	ENSP00000236671.2:p.Ser333=
ENST00000427721.2:c.399C>G	ENSP00000415840.2:p.Ser133=
ENST00000429746.1:c.330C>G	ENSP00000402586.1:p.Ser110=
ENST00000433655.5:c.*165C>G	ENSP00000404902.1:n.*165C>G
ENST00000497544.1:n.707C>G
NM_001909.4:c.999C>G	NP_001900.1:p.Ser333=
NM_001909.5:c.999C>G MANE Select	NP_001900.1:p.Ser333=