Canonical Allele Identifier: CA379093373

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753891-G-C
• MyVariant Identifiers: chr11:g.1775121G>C (hg19) ; chr11:g.1753891G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753891G>C , CM000673.2:g.1753891G>C	GRCh38
NC_000011.9:g.1775121G>C , CM000673.1:g.1775121G>C	GRCh37
NC_000011.8:g.1731697G>C	NCBI36
NG_008655.1:g.15102C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.983C>G MANE Select	ENSP00000236671.2:p.Pro328Arg
ENST00000367196.4:c.878C>G	ENSP00000356164.4:p.Pro293Arg
ENST00000427721.3:c.408C>G
ENST00000429746.2:c.878C>G	ENSP00000402586.2:p.Pro293Arg
ENST00000433655.6:c.*149C>G	ENSP00000404902.1:n.*149C>G
ENST00000438213.6:c.1100C>G	ENSP00000415036.2:p.Pro367Arg
ENST00000497544.3:n.691C>G
ENST00000636397.1:c.983C>G	ENSP00000489910.1:p.Pro328Arg
ENST00000636571.1:c.962C>G	ENSP00000490770.1:p.Pro321Arg
ENST00000636615.1:c.983C>G	ENSP00000490014.1:p.Pro328Arg
ENST00000636843.1:c.977C>G	ENSP00000490897.1:p.Pro326Arg
ENST00000637158.1:n.581C>G
ENST00000637381.2:n.3411C>G
ENST00000637387.1:c.973-11C>G	ENSP00000490598.1:n.973-11C>G
ENST00000637815.2:c.965C>G	ENSP00000490344.1:p.Pro322Arg
ENST00000637915.1:c.983C>G	ENSP00000490471.1:p.Pro328Arg
ENST00000637937.1:n.291C>G
ENST00000678991.1:c.*844C>G	ENSP00000503019.1:n.*844C>G
ENST00000236671.6:c.983C>G	ENSP00000236671.2:p.Pro328Arg
ENST00000427721.2:c.383C>G	ENSP00000415840.2:p.Pro128Arg
ENST00000429746.1:c.314C>G	ENSP00000402586.1:p.Pro105Arg
ENST00000433655.5:c.*149C>G	ENSP00000404902.1:n.*149C>G
ENST00000497544.1:n.691C>G
NM_001909.4:c.983C>G	NP_001900.1:p.Pro328Arg
NM_001909.5:c.983C>G MANE Select	NP_001900.1:p.Pro328Arg