Canonical Allele Identifier: CA379092366

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774766G>T (hg19) ; chr11:g.1753536G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753536G>T , CM000673.2:g.1753536G>T	GRCh38
NC_000011.9:g.1774766G>T , CM000673.1:g.1774766G>T	GRCh37
NC_000011.8:g.1731342G>T	NCBI36
NG_008655.1:g.15457C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1206C>A MANE Select	ENSP00000236671.2:p.Asn402Lys
ENST00000367196.4:c.1101C>A	ENSP00000356164.4:p.Asn367Lys
ENST00000427721.3:c.631C>A
ENST00000429746.2:c.1101C>A	ENSP00000402586.2:p.Asn367Lys
ENST00000433655.6:c.*372C>A	ENSP00000404902.1:n.*372C>A
ENST00000438213.6:c.1323C>A	ENSP00000415036.2:p.Asn441Lys
ENST00000636397.1:c.1071+267C>A	ENSP00000489910.1:n.1071+267C>A
ENST00000636571.1:c.1185C>A	ENSP00000490770.1:p.Asn395Lys
ENST00000636579.1:c.72+267C>A	ENSP00000490489.1:n.72+267C>A
ENST00000636615.1:c.1071+267C>A	ENSP00000490014.1:n.1071+267C>A
ENST00000636843.1:c.1200C>A	ENSP00000490897.1:p.Asn400Lys
ENST00000637158.1:n.804C>A
ENST00000637381.2:n.3634C>A
ENST00000637387.1:c.1185C>A	ENSP00000490598.1:p.Asn395Lys
ENST00000637815.2:c.1188C>A	ENSP00000490344.1:p.Asn396Lys
ENST00000637915.1:c.1197C>A	ENSP00000490471.1:p.Asn399Lys
ENST00000637937.1:n.514C>A
ENST00000678991.1:c.*1067C>A	ENSP00000503019.1:n.*1067C>A
ENST00000236671.6:c.1206C>A	ENSP00000236671.2:p.Asn402Lys
ENST00000427721.2:c.471+267C>A	ENSP00000415840.2:n.471+267C>A
ENST00000429746.1:c.537C>A	ENSP00000402586.1:p.Asn179Lys
ENST00000433655.5:c.*372C>A	ENSP00000404902.1:n.*372C>A
NM_001909.4:c.1206C>A	NP_001900.1:p.Asn402Lys
NM_001909.5:c.1206C>A MANE Select	NP_001900.1:p.Asn402Lys