Canonical Allele Identifier: CA472139622

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2161434
• ClinVar RCV Id: RCV003089496
• MyVariant Identifiers: chr11:g.1774766G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1206C>T MANE Select	ENSP00000236671.2:p.Asn402=
ENST00000367196.4:c.1101C>T	ENSP00000356164.4:p.Asn367=
ENST00000427721.3:c.631C>T
ENST00000429746.2:c.1101C>T	ENSP00000402586.2:p.Asn367=
ENST00000433655.6:c.*372C>T	ENSP00000404902.1:n.*372C>T
ENST00000438213.6:c.1323C>T	ENSP00000415036.2:p.Asn441=
ENST00000636397.1:c.1071+267C>T	ENSP00000489910.1:n.1071+267C>T
ENST00000636571.1:c.1185C>T	ENSP00000490770.1:p.Asn395=
ENST00000636579.1:c.72+267C>T	ENSP00000490489.1:n.72+267C>T
ENST00000636615.1:c.1071+267C>T	ENSP00000490014.1:n.1071+267C>T
ENST00000636843.1:c.1200C>T	ENSP00000490897.1:p.Asn400=
ENST00000637158.1:n.804C>T
ENST00000637381.2:n.3634C>T
ENST00000637387.1:c.1185C>T	ENSP00000490598.1:p.Asn395=
ENST00000637815.2:c.1188C>T	ENSP00000490344.1:p.Asn396=
ENST00000637915.1:c.1197C>T	ENSP00000490471.1:p.Asn399=
ENST00000637937.1:n.514C>T
ENST00000678991.1:c.*1067C>T	ENSP00000503019.1:n.*1067C>T
ENST00000236671.6:c.1206C>T	ENSP00000236671.2:p.Asn402=
ENST00000427721.2:c.471+267C>T	ENSP00000415840.2:n.471+267C>T
ENST00000429746.1:c.537C>T	ENSP00000402586.1:p.Asn179=
ENST00000433655.5:c.*372C>T	ENSP00000404902.1:n.*372C>T
NM_001909.4:c.1206C>T	NP_001900.1:p.Asn402=
NM_001909.5:c.1206C>T MANE Select	NP_001900.1:p.Asn402=