Canonical Allele Identifier: CA379092751

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774883C>G (hg19) ; chr11:g.1753653C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753653C>G , CM000673.2:g.1753653C>G	GRCh38
NC_000011.9:g.1774883C>G , CM000673.1:g.1774883C>G	GRCh37
NC_000011.8:g.1731459C>G	NCBI36
NG_008655.1:g.15340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1089G>C MANE Select	ENSP00000236671.2:p.Lys363Asn
ENST00000367196.4:c.984G>C	ENSP00000356164.4:p.Lys328Asn
ENST00000427721.3:c.514G>C
ENST00000429746.2:c.984G>C	ENSP00000402586.2:p.Lys328Asn
ENST00000433655.6:c.*255G>C	ENSP00000404902.1:n.*255G>C
ENST00000438213.6:c.1206G>C	ENSP00000415036.2:p.Lys402Asn
ENST00000497544.3:n.797G>C
ENST00000636397.1:c.1071+150G>C	ENSP00000489910.1:n.1071+150G>C
ENST00000636571.1:c.1068G>C	ENSP00000490770.1:p.Lys356Asn
ENST00000636579.1:c.72+150G>C	ENSP00000490489.1:n.72+150G>C
ENST00000636615.1:c.1071+150G>C	ENSP00000490014.1:n.1071+150G>C
ENST00000636843.1:c.1083G>C	ENSP00000490897.1:p.Lys361Asn
ENST00000637158.1:n.687G>C
ENST00000637381.2:n.3517G>C
ENST00000637387.1:c.1068G>C	ENSP00000490598.1:p.Lys356Asn
ENST00000637815.2:c.1071G>C	ENSP00000490344.1:p.Lys357Asn
ENST00000637915.1:c.1080G>C	ENSP00000490471.1:p.Lys360Asn
ENST00000637937.1:n.397G>C
ENST00000678991.1:c.*950G>C	ENSP00000503019.1:n.*950G>C
ENST00000236671.6:c.1089G>C	ENSP00000236671.2:p.Lys363Asn
ENST00000427721.2:c.471+150G>C	ENSP00000415840.2:n.471+150G>C
ENST00000429746.1:c.420G>C	ENSP00000402586.1:p.Lys140Asn
ENST00000433655.5:c.*255G>C	ENSP00000404902.1:n.*255G>C
NM_001909.4:c.1089G>C	NP_001900.1:p.Lys363Asn
NM_001909.5:c.1089G>C MANE Select	NP_001900.1:p.Lys363Asn