Canonical Allele Identifier: CA379092323

Gene: CTSD

Linked Data

• ClinVar Variation Id: 962449
• ClinVar RCV Id: RCV001236303
• dbSNP Id: rs1316535195
• MyVariant Identifiers: chr11:g.1774744C>G (hg19) ; chr11:g.1753514C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753514C>G , CM000673.2:g.1753514C>G	GRCh38
NC_000011.9:g.1774744C>G , CM000673.1:g.1774744C>G	GRCh37
NC_000011.8:g.1731320C>G	NCBI36
NG_008655.1:g.15479G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1228G>C MANE Select	ENSP00000236671.2:p.Ala410Pro
ENST00000367196.4:c.1123G>C	ENSP00000356164.4:p.Ala375Pro
ENST00000427721.3:c.634+19G>C
ENST00000429746.2:c.1123G>C	ENSP00000402586.2:p.Ala375Pro
ENST00000433655.6:c.*394G>C	ENSP00000404902.1:n.*394G>C
ENST00000438213.6:c.1345G>C	ENSP00000415036.2:p.Ala449Pro
ENST00000636397.1:c.1071+289G>C	ENSP00000489910.1:n.1071+289G>C
ENST00000636571.1:c.1207G>C	ENSP00000490770.1:p.Ala403Pro
ENST00000636579.1:c.72+289G>C	ENSP00000490489.1:n.72+289G>C
ENST00000636615.1:c.1071+289G>C	ENSP00000490014.1:n.1071+289G>C
ENST00000636843.1:c.1222G>C	ENSP00000490897.1:p.Ala408Pro
ENST00000637158.1:n.826G>C
ENST00000637381.2:n.3656G>C
ENST00000637387.1:c.1207G>C	ENSP00000490598.1:p.Ala403Pro
ENST00000637815.2:c.1210G>C	ENSP00000490344.1:p.Ala404Pro
ENST00000637915.1:c.1219G>C	ENSP00000490471.1:p.Ala407Pro
ENST00000637937.1:n.536G>C
ENST00000678991.1:c.*1089G>C	ENSP00000503019.1:n.*1089G>C
ENST00000236671.6:c.1228G>C	ENSP00000236671.2:p.Ala410Pro
ENST00000427721.2:c.471+289G>C	ENSP00000415840.2:n.471+289G>C
ENST00000429746.1:c.559G>C	ENSP00000402586.1:p.Ala187Pro
ENST00000433655.5:c.*394G>C	ENSP00000404902.1:n.*394G>C
NM_001909.4:c.1228G>C	NP_001900.1:p.Ala410Pro
NM_001909.5:c.1228G>C MANE Select	NP_001900.1:p.Ala410Pro