Canonical Allele Identifier: CA379093169

Gene: CTSD

Linked Data

• dbSNP Id: rs1382064587
• gnomAD v2: 11-1775071-T-G
• gnomAD v3: 11-1753841-T-G
• gnomAD v4: 11-1753841-T-G
• MyVariant Identifiers: chr11:g.1775071T>G (hg19) ; chr11:g.1753841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753841T>G , CM000673.2:g.1753841T>G	GRCh38
NC_000011.9:g.1775071T>G , CM000673.1:g.1775071T>G	GRCh37
NC_000011.8:g.1731647T>G	NCBI36
NG_008655.1:g.15152A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1033A>C MANE Select	ENSP00000236671.2:p.Lys345Gln
ENST00000367196.4:c.928A>C	ENSP00000356164.4:p.Lys310Gln
ENST00000427721.3:c.458A>C
ENST00000429746.2:c.928A>C	ENSP00000402586.2:p.Lys310Gln
ENST00000433655.6:c.*199A>C	ENSP00000404902.1:n.*199A>C
ENST00000438213.6:c.1150A>C	ENSP00000415036.2:p.Lys384Gln
ENST00000497544.3:n.741A>C
ENST00000636397.1:c.1033A>C	ENSP00000489910.1:p.Lys345Gln
ENST00000636571.1:c.1012A>C	ENSP00000490770.1:p.Lys338Gln
ENST00000636579.1:c.34A>C	ENSP00000490489.1:p.Lys12Gln
ENST00000636615.1:c.1033A>C	ENSP00000490014.1:p.Lys345Gln
ENST00000636843.1:c.1027A>C	ENSP00000490897.1:p.Lys343Gln
ENST00000637158.1:n.631A>C
ENST00000637381.2:n.3461A>C
ENST00000637387.1:c.1012A>C	ENSP00000490598.1:p.Lys338Gln
ENST00000637815.2:c.1015A>C	ENSP00000490344.1:p.Lys339Gln
ENST00000637915.1:c.1033A>C	ENSP00000490471.1:p.Lys345Gln
ENST00000637937.1:n.341A>C
ENST00000678991.1:c.*894A>C	ENSP00000503019.1:n.*894A>C
ENST00000236671.6:c.1033A>C	ENSP00000236671.2:p.Lys345Gln
ENST00000427721.2:c.433A>C	ENSP00000415840.2:p.Lys145Gln
ENST00000429746.1:c.364A>C	ENSP00000402586.1:p.Lys122Gln
ENST00000433655.5:c.*199A>C	ENSP00000404902.1:n.*199A>C
ENST00000497544.1:n.741A>C
NM_001909.4:c.1033A>C	NP_001900.1:p.Lys345Gln
NM_001909.5:c.1033A>C MANE Select	NP_001900.1:p.Lys345Gln