Canonical Allele Identifier: CA379093209

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753852-T-C
• MyVariant Identifiers: chr11:g.1775082T>C (hg19) ; chr11:g.1753852T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753852T>C , CM000673.2:g.1753852T>C	GRCh38
NC_000011.9:g.1775082T>C , CM000673.1:g.1775082T>C	GRCh37
NC_000011.8:g.1731658T>C	NCBI36
NG_008655.1:g.15141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1022A>G MANE Select	ENSP00000236671.2:p.Lys341Arg
ENST00000367196.4:c.917A>G	ENSP00000356164.4:p.Lys306Arg
ENST00000427721.3:c.447A>G
ENST00000429746.2:c.917A>G	ENSP00000402586.2:p.Lys306Arg
ENST00000433655.6:c.*188A>G	ENSP00000404902.1:n.*188A>G
ENST00000438213.6:c.1139A>G	ENSP00000415036.2:p.Lys380Arg
ENST00000497544.3:n.730A>G
ENST00000636397.1:c.1022A>G	ENSP00000489910.1:p.Lys341Arg
ENST00000636571.1:c.1001A>G	ENSP00000490770.1:p.Lys334Arg
ENST00000636579.1:c.23A>G	ENSP00000490489.1:p.Lys8Arg
ENST00000636615.1:c.1022A>G	ENSP00000490014.1:p.Lys341Arg
ENST00000636843.1:c.1016A>G	ENSP00000490897.1:p.Lys339Arg
ENST00000637158.1:n.620A>G
ENST00000637381.2:n.3450A>G
ENST00000637387.1:c.1001A>G	ENSP00000490598.1:p.Lys334Arg
ENST00000637815.2:c.1004A>G	ENSP00000490344.1:p.Lys335Arg
ENST00000637915.1:c.1022A>G	ENSP00000490471.1:p.Lys341Arg
ENST00000637937.1:n.330A>G
ENST00000678991.1:c.*883A>G	ENSP00000503019.1:n.*883A>G
ENST00000236671.6:c.1022A>G	ENSP00000236671.2:p.Lys341Arg
ENST00000427721.2:c.422A>G	ENSP00000415840.2:p.Lys141Arg
ENST00000429746.1:c.353A>G	ENSP00000402586.1:p.Lys118Arg
ENST00000433655.5:c.*188A>G	ENSP00000404902.1:n.*188A>G
ENST00000497544.1:n.730A>G
NM_001909.4:c.1022A>G	NP_001900.1:p.Lys341Arg
NM_001909.5:c.1022A>G MANE Select	NP_001900.1:p.Lys341Arg