Canonical Allele Identifier: CA379092580

Gene: CTSD

Linked Data

• dbSNP Id: rs1845755346
• gnomAD v4: 11-1753607-T-C
• MyVariant Identifiers: chr11:g.1774837T>C (hg19) ; chr11:g.1753607T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753607T>C , CM000673.2:g.1753607T>C	GRCh38
NC_000011.9:g.1774837T>C , CM000673.1:g.1774837T>C	GRCh37
NC_000011.8:g.1731413T>C	NCBI36
NG_008655.1:g.15386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1135A>G MANE Select	ENSP00000236671.2:p.Ser379Gly
ENST00000367196.4:c.1030A>G	ENSP00000356164.4:p.Ser344Gly
ENST00000427721.3:c.560A>G
ENST00000429746.2:c.1030A>G	ENSP00000402586.2:p.Ser344Gly
ENST00000433655.6:c.*301A>G	ENSP00000404902.1:n.*301A>G
ENST00000438213.6:c.1252A>G	ENSP00000415036.2:p.Ser418Gly
ENST00000636397.1:c.1071+196A>G	ENSP00000489910.1:n.1071+196A>G
ENST00000636571.1:c.1114A>G	ENSP00000490770.1:p.Ser372Gly
ENST00000636579.1:c.72+196A>G	ENSP00000490489.1:n.72+196A>G
ENST00000636615.1:c.1071+196A>G	ENSP00000490014.1:n.1071+196A>G
ENST00000636843.1:c.1129A>G	ENSP00000490897.1:p.Ser377Gly
ENST00000637158.1:n.733A>G
ENST00000637381.2:n.3563A>G
ENST00000637387.1:c.1114A>G	ENSP00000490598.1:p.Ser372Gly
ENST00000637815.2:c.1117A>G	ENSP00000490344.1:p.Ser373Gly
ENST00000637915.1:c.1126A>G	ENSP00000490471.1:p.Ser376Gly
ENST00000637937.1:n.443A>G
ENST00000678991.1:c.*996A>G	ENSP00000503019.1:n.*996A>G
ENST00000236671.6:c.1135A>G	ENSP00000236671.2:p.Ser379Gly
ENST00000427721.2:c.471+196A>G	ENSP00000415840.2:n.471+196A>G
ENST00000429746.1:c.466A>G	ENSP00000402586.1:p.Ser156Gly
ENST00000433655.5:c.*301A>G	ENSP00000404902.1:n.*301A>G
NM_001909.4:c.1135A>G	NP_001900.1:p.Ser379Gly
NM_001909.5:c.1135A>G MANE Select	NP_001900.1:p.Ser379Gly