Canonical Allele Identifier: CA379092372

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774768T>G (hg19) ; chr11:g.1753538T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753538T>G , CM000673.2:g.1753538T>G	GRCh38
NC_000011.9:g.1774768T>G , CM000673.1:g.1774768T>G	GRCh37
NC_000011.8:g.1731344T>G	NCBI36
NG_008655.1:g.15455A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1204A>C MANE Select	ENSP00000236671.2:p.Asn402His
ENST00000367196.4:c.1099A>C	ENSP00000356164.4:p.Asn367His
ENST00000427721.3:c.629A>C
ENST00000429746.2:c.1099A>C	ENSP00000402586.2:p.Asn367His
ENST00000433655.6:c.*370A>C	ENSP00000404902.1:n.*370A>C
ENST00000438213.6:c.1321A>C	ENSP00000415036.2:p.Asn441His
ENST00000636397.1:c.1071+265A>C	ENSP00000489910.1:n.1071+265A>C
ENST00000636571.1:c.1183A>C	ENSP00000490770.1:p.Asn395His
ENST00000636579.1:c.72+265A>C	ENSP00000490489.1:n.72+265A>C
ENST00000636615.1:c.1071+265A>C	ENSP00000490014.1:n.1071+265A>C
ENST00000636843.1:c.1198A>C	ENSP00000490897.1:p.Asn400His
ENST00000637158.1:n.802A>C
ENST00000637381.2:n.3632A>C
ENST00000637387.1:c.1183A>C	ENSP00000490598.1:p.Asn395His
ENST00000637815.2:c.1186A>C	ENSP00000490344.1:p.Asn396His
ENST00000637915.1:c.1195A>C	ENSP00000490471.1:p.Asn399His
ENST00000637937.1:n.512A>C
ENST00000678991.1:c.*1065A>C	ENSP00000503019.1:n.*1065A>C
ENST00000236671.6:c.1204A>C	ENSP00000236671.2:p.Asn402His
ENST00000427721.2:c.471+265A>C	ENSP00000415840.2:n.471+265A>C
ENST00000429746.1:c.535A>C	ENSP00000402586.1:p.Asn179His
ENST00000433655.5:c.*370A>C	ENSP00000404902.1:n.*370A>C
NM_001909.4:c.1204A>C	NP_001900.1:p.Asn402His
NM_001909.5:c.1204A>C MANE Select	NP_001900.1:p.Asn402His