Canonical Allele Identifier: CA379092873

Gene: CTSD

Linked Data

• dbSNP Id: rs1365499912
• gnomAD v2: 11-1775049-T-C
• gnomAD v4: 11-1753819-T-C
• MyVariant Identifiers: chr11:g.1775049T>C (hg19) ; chr11:g.1753819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753819T>C , CM000673.2:g.1753819T>C	GRCh38
NC_000011.9:g.1775049T>C , CM000673.1:g.1775049T>C	GRCh37
NC_000011.8:g.1731625T>C	NCBI36
NG_008655.1:g.15174A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1055A>G MANE Select	ENSP00000236671.2:p.Glu352Gly
ENST00000367196.4:c.950A>G	ENSP00000356164.4:p.Glu317Gly
ENST00000427721.3:c.480A>G
ENST00000429746.2:c.950A>G	ENSP00000402586.2:p.Glu317Gly
ENST00000433655.6:c.*221A>G	ENSP00000404902.1:n.*221A>G
ENST00000438213.6:c.1172A>G	ENSP00000415036.2:p.Glu391Gly
ENST00000497544.3:n.763A>G
ENST00000636397.1:c.1055A>G	ENSP00000489910.1:p.Glu352Gly
ENST00000636571.1:c.1034A>G	ENSP00000490770.1:p.Glu345Gly
ENST00000636579.1:c.56A>G	ENSP00000490489.1:p.Glu19Gly
ENST00000636615.1:c.1055A>G	ENSP00000490014.1:p.Glu352Gly
ENST00000636843.1:c.1049A>G	ENSP00000490897.1:p.Glu350Gly
ENST00000637158.1:n.653A>G
ENST00000637381.2:n.3483A>G
ENST00000637387.1:c.1034A>G	ENSP00000490598.1:p.Glu345Gly
ENST00000637815.2:c.1037A>G	ENSP00000490344.1:p.Glu346Gly
ENST00000637915.1:c.1055A>G	ENSP00000490471.1:p.Glu352Gly
ENST00000637937.1:n.363A>G
ENST00000678991.1:c.*916A>G	ENSP00000503019.1:n.*916A>G
ENST00000236671.6:c.1055A>G	ENSP00000236671.2:p.Glu352Gly
ENST00000427721.2:c.455A>G	ENSP00000415840.2:p.Glu152Gly
ENST00000429746.1:c.386A>G	ENSP00000402586.1:p.Glu129Gly
ENST00000433655.5:c.*221A>G	ENSP00000404902.1:n.*221A>G
ENST00000497544.1:n.763A>G
NM_001909.4:c.1055A>G	NP_001900.1:p.Glu352Gly
NM_001909.5:c.1055A>G MANE Select	NP_001900.1:p.Glu352Gly