Canonical Allele Identifier: CA379092703

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774869C>T (hg19) ; chr11:g.1753639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753639C>T , CM000673.2:g.1753639C>T	GRCh38
NC_000011.9:g.1774869C>T , CM000673.1:g.1774869C>T	GRCh37
NC_000011.8:g.1731445C>T	NCBI36
NG_008655.1:g.15354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1103G>A MANE Select	ENSP00000236671.2:p.Ser368Asn
ENST00000367196.4:c.998G>A	ENSP00000356164.4:p.Ser333Asn
ENST00000427721.3:c.528G>A
ENST00000429746.2:c.998G>A	ENSP00000402586.2:p.Ser333Asn
ENST00000433655.6:c.*269G>A	ENSP00000404902.1:n.*269G>A
ENST00000438213.6:c.1220G>A	ENSP00000415036.2:p.Ser407Asn
ENST00000636397.1:c.1071+164G>A	ENSP00000489910.1:n.1071+164G>A
ENST00000636571.1:c.1082G>A	ENSP00000490770.1:p.Ser361Asn
ENST00000636579.1:c.72+164G>A	ENSP00000490489.1:n.72+164G>A
ENST00000636615.1:c.1071+164G>A	ENSP00000490014.1:n.1071+164G>A
ENST00000636843.1:c.1097G>A	ENSP00000490897.1:p.Ser366Asn
ENST00000637158.1:n.701G>A
ENST00000637381.2:n.3531G>A
ENST00000637387.1:c.1082G>A	ENSP00000490598.1:p.Ser361Asn
ENST00000637815.2:c.1085G>A	ENSP00000490344.1:p.Ser362Asn
ENST00000637915.1:c.1094G>A	ENSP00000490471.1:p.Ser365Asn
ENST00000637937.1:n.411G>A
ENST00000678991.1:c.*964G>A	ENSP00000503019.1:n.*964G>A
ENST00000236671.6:c.1103G>A	ENSP00000236671.2:p.Ser368Asn
ENST00000427721.2:c.471+164G>A	ENSP00000415840.2:n.471+164G>A
ENST00000429746.1:c.434G>A	ENSP00000402586.1:p.Ser145Asn
ENST00000433655.5:c.*269G>A	ENSP00000404902.1:n.*269G>A
NM_001909.4:c.1103G>A	NP_001900.1:p.Ser368Asn
NM_001909.5:c.1103G>A MANE Select	NP_001900.1:p.Ser368Asn