Canonical Allele Identifier: CA379092723

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774875C>A (hg19) ; chr11:g.1753645C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753645C>A , CM000673.2:g.1753645C>A	GRCh38
NC_000011.9:g.1774875C>A , CM000673.1:g.1774875C>A	GRCh37
NC_000011.8:g.1731451C>A	NCBI36
NG_008655.1:g.15348G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1097G>T MANE Select	ENSP00000236671.2:p.Cys366Phe
ENST00000367196.4:c.992G>T	ENSP00000356164.4:p.Cys331Phe
ENST00000427721.3:c.522G>T
ENST00000429746.2:c.992G>T	ENSP00000402586.2:p.Cys331Phe
ENST00000433655.6:c.*263G>T	ENSP00000404902.1:n.*263G>T
ENST00000438213.6:c.1214G>T	ENSP00000415036.2:p.Cys405Phe
ENST00000636397.1:c.1071+158G>T	ENSP00000489910.1:n.1071+158G>T
ENST00000636571.1:c.1076G>T	ENSP00000490770.1:p.Cys359Phe
ENST00000636579.1:c.72+158G>T	ENSP00000490489.1:n.72+158G>T
ENST00000636615.1:c.1071+158G>T	ENSP00000490014.1:n.1071+158G>T
ENST00000636843.1:c.1091G>T	ENSP00000490897.1:p.Cys364Phe
ENST00000637158.1:n.695G>T
ENST00000637381.2:n.3525G>T
ENST00000637387.1:c.1076G>T	ENSP00000490598.1:p.Cys359Phe
ENST00000637815.2:c.1079G>T	ENSP00000490344.1:p.Cys360Phe
ENST00000637915.1:c.1088G>T	ENSP00000490471.1:p.Cys363Phe
ENST00000637937.1:n.405G>T
ENST00000678991.1:c.*958G>T	ENSP00000503019.1:n.*958G>T
ENST00000236671.6:c.1097G>T	ENSP00000236671.2:p.Cys366Phe
ENST00000427721.2:c.471+158G>T	ENSP00000415840.2:n.471+158G>T
ENST00000429746.1:c.428G>T	ENSP00000402586.1:p.Cys143Phe
ENST00000433655.5:c.*263G>T	ENSP00000404902.1:n.*263G>T
NM_001909.4:c.1097G>T	NP_001900.1:p.Cys366Phe
NM_001909.5:c.1097G>T MANE Select	NP_001900.1:p.Cys366Phe