Canonical Allele Identifier: CA379092342

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774755A>C (hg19) ; chr11:g.1753525A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753525A>C , CM000673.2:g.1753525A>C	GRCh38
NC_000011.9:g.1774755A>C , CM000673.1:g.1774755A>C	GRCh37
NC_000011.8:g.1731331A>C	NCBI36
NG_008655.1:g.15468T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1217T>G MANE Select	ENSP00000236671.2:p.Phe406Cys
ENST00000367196.4:c.1112T>G	ENSP00000356164.4:p.Phe371Cys
ENST00000427721.3:c.634+8T>G
ENST00000429746.2:c.1112T>G	ENSP00000402586.2:p.Phe371Cys
ENST00000433655.6:c.*383T>G	ENSP00000404902.1:n.*383T>G
ENST00000438213.6:c.1334T>G	ENSP00000415036.2:p.Phe445Cys
ENST00000636397.1:c.1071+278T>G	ENSP00000489910.1:n.1071+278T>G
ENST00000636571.1:c.1196T>G	ENSP00000490770.1:p.Phe399Cys
ENST00000636579.1:c.72+278T>G	ENSP00000490489.1:n.72+278T>G
ENST00000636615.1:c.1071+278T>G	ENSP00000490014.1:n.1071+278T>G
ENST00000636843.1:c.1211T>G	ENSP00000490897.1:p.Phe404Cys
ENST00000637158.1:n.815T>G
ENST00000637381.2:n.3645T>G
ENST00000637387.1:c.1196T>G	ENSP00000490598.1:p.Phe399Cys
ENST00000637815.2:c.1199T>G	ENSP00000490344.1:p.Phe400Cys
ENST00000637915.1:c.1208T>G	ENSP00000490471.1:p.Phe403Cys
ENST00000637937.1:n.525T>G
ENST00000678991.1:c.*1078T>G	ENSP00000503019.1:n.*1078T>G
ENST00000236671.6:c.1217T>G	ENSP00000236671.2:p.Phe406Cys
ENST00000427721.2:c.471+278T>G	ENSP00000415840.2:n.471+278T>G
ENST00000429746.1:c.548T>G	ENSP00000402586.1:p.Phe183Cys
ENST00000433655.5:c.*383T>G	ENSP00000404902.1:n.*383T>G
NM_001909.4:c.1217T>G	NP_001900.1:p.Phe406Cys
NM_001909.5:c.1217T>G MANE Select	NP_001900.1:p.Phe406Cys