Canonical Allele Identifier: CA379093813

Gene: CTSD

Linked Data

• dbSNP Id: rs1410064126
• gnomAD v2: 11-1775279-T-C
• gnomAD v3: 11-1754049-T-C
• gnomAD v4: 11-1754049-T-C
• MyVariant Identifiers: chr11:g.1775279T>C (hg19) ; chr11:g.1754049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754049T>C , CM000673.2:g.1754049T>C	GRCh38
NC_000011.9:g.1775279T>C , CM000673.1:g.1775279T>C	GRCh37
NC_000011.8:g.1731855T>C	NCBI36
NG_008655.1:g.14944A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.917A>G MANE Select	ENSP00000236671.2:p.Asp306Gly
ENST00000367196.4:c.812A>G	ENSP00000356164.4:p.Asp271Gly
ENST00000427721.3:c.342A>G
ENST00000429746.2:c.812A>G	ENSP00000402586.2:p.Asp271Gly
ENST00000433655.6:c.*83A>G	ENSP00000404902.1:n.*83A>G
ENST00000438213.6:c.1034A>G	ENSP00000415036.2:p.Asp345Gly
ENST00000497544.3:n.533A>G
ENST00000636397.1:c.917A>G	ENSP00000489910.1:p.Asp306Gly
ENST00000636571.1:c.896A>G	ENSP00000490770.1:p.Asp299Gly
ENST00000636615.1:c.917A>G	ENSP00000490014.1:p.Asp306Gly
ENST00000636843.1:c.911A>G	ENSP00000490897.1:p.Asp304Gly
ENST00000637158.1:n.515A>G
ENST00000637381.2:n.3345A>G
ENST00000637387.1:c.917A>G	ENSP00000490598.1:p.Asp306Gly
ENST00000637815.2:c.899A>G	ENSP00000490344.1:p.Asp300Gly
ENST00000637915.1:c.917A>G	ENSP00000490471.1:p.Asp306Gly
ENST00000637937.1:n.225A>G
ENST00000678991.1:c.*778A>G	ENSP00000503019.1:n.*778A>G
ENST00000236671.6:c.917A>G	ENSP00000236671.2:p.Asp306Gly
ENST00000427721.2:c.317A>G	ENSP00000415840.2:p.Asp106Gly
ENST00000429746.1:c.248A>G	ENSP00000402586.1:p.Asp83Gly
ENST00000433655.5:c.*83A>G	ENSP00000404902.1:n.*83A>G
ENST00000438213.5:c.872A>G	ENSP00000415036.1:p.Asp291Gly
ENST00000497544.1:n.533A>G
NM_001909.4:c.917A>G	NP_001900.1:p.Asp306Gly
NM_001909.5:c.917A>G MANE Select	NP_001900.1:p.Asp306Gly