Canonical Allele Identifier: CA472140247

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775069T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753839T>C , CM000673.2:g.1753839T>C	GRCh38
NC_000011.9:g.1775069T>C , CM000673.1:g.1775069T>C	GRCh37
NC_000011.8:g.1731645T>C	NCBI36
NG_008655.1:g.15154A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1035A>G MANE Select	ENSP00000236671.2:p.Lys345=
ENST00000367196.4:c.930A>G	ENSP00000356164.4:p.Lys310=
ENST00000427721.3:c.460A>G
ENST00000429746.2:c.930A>G	ENSP00000402586.2:p.Lys310=
ENST00000433655.6:c.*201A>G	ENSP00000404902.1:n.*201A>G
ENST00000438213.6:c.1152A>G	ENSP00000415036.2:p.Lys384=
ENST00000497544.3:n.743A>G
ENST00000636397.1:c.1035A>G	ENSP00000489910.1:p.Lys345=
ENST00000636571.1:c.1014A>G	ENSP00000490770.1:p.Lys338=
ENST00000636579.1:c.36A>G	ENSP00000490489.1:p.Lys12=
ENST00000636615.1:c.1035A>G	ENSP00000490014.1:p.Lys345=
ENST00000636843.1:c.1029A>G	ENSP00000490897.1:p.Lys343=
ENST00000637158.1:n.633A>G
ENST00000637381.2:n.3463A>G
ENST00000637387.1:c.1014A>G	ENSP00000490598.1:p.Lys338=
ENST00000637815.2:c.1017A>G	ENSP00000490344.1:p.Lys339=
ENST00000637915.1:c.1035A>G	ENSP00000490471.1:p.Lys345=
ENST00000637937.1:n.343A>G
ENST00000678991.1:c.*896A>G	ENSP00000503019.1:n.*896A>G
ENST00000236671.6:c.1035A>G	ENSP00000236671.2:p.Lys345=
ENST00000427721.2:c.435A>G	ENSP00000415840.2:p.Lys145=
ENST00000429746.1:c.366A>G	ENSP00000402586.1:p.Lys122=
ENST00000433655.5:c.*201A>G	ENSP00000404902.1:n.*201A>G
ENST00000497544.1:n.743A>G
NM_001909.4:c.1035A>G	NP_001900.1:p.Lys345=
NM_001909.5:c.1035A>G MANE Select	NP_001900.1:p.Lys345=