Canonical Allele Identifier: CA379093326

Gene: CTSD

Linked Data

• ClinVar Variation Id: 527731
• ClinVar RCV Id: RCV000632681
• dbSNP Id: rs1181418072
• MyVariant Identifiers: chr11:g.1775111C>G (hg19) ; chr11:g.1753881C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753881C>G , CM000673.2:g.1753881C>G	GRCh38
NC_000011.9:g.1775111C>G , CM000673.1:g.1775111C>G	GRCh37
NC_000011.8:g.1731687C>G	NCBI36
NG_008655.1:g.15112G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.993G>C MANE Select	ENSP00000236671.2:p.Lys331Asn
ENST00000367196.4:c.888G>C	ENSP00000356164.4:p.Lys296Asn
ENST00000427721.3:c.418G>C
ENST00000429746.2:c.888G>C	ENSP00000402586.2:p.Lys296Asn
ENST00000433655.6:c.*159G>C	ENSP00000404902.1:n.*159G>C
ENST00000438213.6:c.1110G>C	ENSP00000415036.2:p.Lys370Asn
ENST00000497544.3:n.701G>C
ENST00000636397.1:c.993G>C	ENSP00000489910.1:p.Lys331Asn
ENST00000636571.1:c.972G>C	ENSP00000490770.1:p.Lys324Asn
ENST00000636615.1:c.993G>C	ENSP00000490014.1:p.Lys331Asn
ENST00000636843.1:c.987G>C	ENSP00000490897.1:p.Lys329Asn
ENST00000637158.1:n.591G>C
ENST00000637381.2:n.3421G>C
ENST00000637387.1:c.973-1G>C	ENSP00000490598.1:n.973-1G>C
ENST00000637815.2:c.975G>C	ENSP00000490344.1:p.Lys325Asn
ENST00000637915.1:c.993G>C	ENSP00000490471.1:p.Lys331Asn
ENST00000637937.1:n.301G>C
ENST00000678991.1:c.*854G>C	ENSP00000503019.1:n.*854G>C
ENST00000236671.6:c.993G>C	ENSP00000236671.2:p.Lys331Asn
ENST00000427721.2:c.393G>C	ENSP00000415840.2:p.Lys131Asn
ENST00000429746.1:c.324G>C	ENSP00000402586.1:p.Lys108Asn
ENST00000433655.5:c.*159G>C	ENSP00000404902.1:n.*159G>C
ENST00000497544.1:n.701G>C
NM_001909.4:c.993G>C	NP_001900.1:p.Lys331Asn
NM_001909.5:c.993G>C MANE Select	NP_001900.1:p.Lys331Asn