Canonical Allele Identifier: CA379093369

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775119A>G (hg19) ; chr11:g.1753889A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753889A>G , CM000673.2:g.1753889A>G	GRCh38
NC_000011.9:g.1775119A>G , CM000673.1:g.1775119A>G	GRCh37
NC_000011.8:g.1731695A>G	NCBI36
NG_008655.1:g.15104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.985T>C MANE Select	ENSP00000236671.2:p.Cys329Arg
ENST00000367196.4:c.880T>C	ENSP00000356164.4:p.Cys294Arg
ENST00000427721.3:c.410T>C
ENST00000429746.2:c.880T>C	ENSP00000402586.2:p.Cys294Arg
ENST00000433655.6:c.*151T>C	ENSP00000404902.1:n.*151T>C
ENST00000438213.6:c.1102T>C	ENSP00000415036.2:p.Cys368Arg
ENST00000497544.3:n.693T>C
ENST00000636397.1:c.985T>C	ENSP00000489910.1:p.Cys329Arg
ENST00000636571.1:c.964T>C	ENSP00000490770.1:p.Cys322Arg
ENST00000636615.1:c.985T>C	ENSP00000490014.1:p.Cys329Arg
ENST00000636843.1:c.979T>C	ENSP00000490897.1:p.Cys327Arg
ENST00000637158.1:n.583T>C
ENST00000637381.2:n.3413T>C
ENST00000637387.1:c.973-9T>C	ENSP00000490598.1:n.973-9T>C
ENST00000637815.2:c.967T>C	ENSP00000490344.1:p.Cys323Arg
ENST00000637915.1:c.985T>C	ENSP00000490471.1:p.Cys329Arg
ENST00000637937.1:n.293T>C
ENST00000678991.1:c.*846T>C	ENSP00000503019.1:n.*846T>C
ENST00000236671.6:c.985T>C	ENSP00000236671.2:p.Cys329Arg
ENST00000427721.2:c.385T>C	ENSP00000415840.2:p.Cys129Arg
ENST00000429746.1:c.316T>C	ENSP00000402586.1:p.Cys106Arg
ENST00000433655.5:c.*151T>C	ENSP00000404902.1:n.*151T>C
ENST00000497544.1:n.693T>C
NM_001909.4:c.985T>C	NP_001900.1:p.Cys329Arg
NM_001909.5:c.985T>C MANE Select	NP_001900.1:p.Cys329Arg