Canonical Allele Identifier: CA379092388

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774776C>G (hg19) ; chr11:g.1753546C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753546C>G , CM000673.2:g.1753546C>G	GRCh38
NC_000011.9:g.1774776C>G , CM000673.1:g.1774776C>G	GRCh37
NC_000011.8:g.1731352C>G	NCBI36
NG_008655.1:g.15447G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1196G>C MANE Select	ENSP00000236671.2:p.Arg399Pro
ENST00000367196.4:c.1091G>C	ENSP00000356164.4:p.Arg364Pro
ENST00000427721.3:c.621G>C
ENST00000429746.2:c.1091G>C	ENSP00000402586.2:p.Arg364Pro
ENST00000433655.6:c.*362G>C	ENSP00000404902.1:n.*362G>C
ENST00000438213.6:c.1313G>C	ENSP00000415036.2:p.Arg438Pro
ENST00000636397.1:c.1071+257G>C	ENSP00000489910.1:n.1071+257G>C
ENST00000636571.1:c.1175G>C	ENSP00000490770.1:p.Arg392Pro
ENST00000636579.1:c.72+257G>C	ENSP00000490489.1:n.72+257G>C
ENST00000636615.1:c.1071+257G>C	ENSP00000490014.1:n.1071+257G>C
ENST00000636843.1:c.1190G>C	ENSP00000490897.1:p.Arg397Pro
ENST00000637158.1:n.794G>C
ENST00000637381.2:n.3624G>C
ENST00000637387.1:c.1175G>C	ENSP00000490598.1:p.Arg392Pro
ENST00000637815.2:c.1178G>C	ENSP00000490344.1:p.Arg393Pro
ENST00000637915.1:c.1187G>C	ENSP00000490471.1:p.Arg396Pro
ENST00000637937.1:n.504G>C
ENST00000678991.1:c.*1057G>C	ENSP00000503019.1:n.*1057G>C
ENST00000236671.6:c.1196G>C	ENSP00000236671.2:p.Arg399Pro
ENST00000427721.2:c.471+257G>C	ENSP00000415840.2:n.471+257G>C
ENST00000429746.1:c.527G>C	ENSP00000402586.1:p.Arg176Pro
ENST00000433655.5:c.*362G>C	ENSP00000404902.1:n.*362G>C
NM_001909.4:c.1196G>C	NP_001900.1:p.Arg399Pro
NM_001909.5:c.1196G>C MANE Select	NP_001900.1:p.Arg399Pro