Canonical Allele Identifier: CA379092705

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774870T>A (hg19) ; chr11:g.1753640T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753640T>A , CM000673.2:g.1753640T>A	GRCh38
NC_000011.9:g.1774870T>A , CM000673.1:g.1774870T>A	GRCh37
NC_000011.8:g.1731446T>A	NCBI36
NG_008655.1:g.15353A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1102A>T MANE Select	ENSP00000236671.2:p.Ser368Cys
ENST00000367196.4:c.997A>T	ENSP00000356164.4:p.Ser333Cys
ENST00000427721.3:c.527A>T
ENST00000429746.2:c.997A>T	ENSP00000402586.2:p.Ser333Cys
ENST00000433655.6:c.*268A>T	ENSP00000404902.1:n.*268A>T
ENST00000438213.6:c.1219A>T	ENSP00000415036.2:p.Ser407Cys
ENST00000636397.1:c.1071+163A>T	ENSP00000489910.1:n.1071+163A>T
ENST00000636571.1:c.1081A>T	ENSP00000490770.1:p.Ser361Cys
ENST00000636579.1:c.72+163A>T	ENSP00000490489.1:n.72+163A>T
ENST00000636615.1:c.1071+163A>T	ENSP00000490014.1:n.1071+163A>T
ENST00000636843.1:c.1096A>T	ENSP00000490897.1:p.Ser366Cys
ENST00000637158.1:n.700A>T
ENST00000637381.2:n.3530A>T
ENST00000637387.1:c.1081A>T	ENSP00000490598.1:p.Ser361Cys
ENST00000637815.2:c.1084A>T	ENSP00000490344.1:p.Ser362Cys
ENST00000637915.1:c.1093A>T	ENSP00000490471.1:p.Ser365Cys
ENST00000637937.1:n.410A>T
ENST00000678991.1:c.*963A>T	ENSP00000503019.1:n.*963A>T
ENST00000236671.6:c.1102A>T	ENSP00000236671.2:p.Ser368Cys
ENST00000427721.2:c.471+163A>T	ENSP00000415840.2:n.471+163A>T
ENST00000429746.1:c.433A>T	ENSP00000402586.1:p.Ser145Cys
ENST00000433655.5:c.*268A>T	ENSP00000404902.1:n.*268A>T
NM_001909.4:c.1102A>T	NP_001900.1:p.Ser368Cys
NM_001909.5:c.1102A>T MANE Select	NP_001900.1:p.Ser368Cys