Canonical Allele Identifier: CA379093358

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775117A>T (hg19) ; chr11:g.1753887A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753887A>T , CM000673.2:g.1753887A>T	GRCh38
NC_000011.9:g.1775117A>T , CM000673.1:g.1775117A>T	GRCh37
NC_000011.8:g.1731693A>T	NCBI36
NG_008655.1:g.15106T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.987T>A MANE Select	ENSP00000236671.2:p.Cys329Ter
ENST00000367196.4:c.882T>A	ENSP00000356164.4:p.Cys294Ter
ENST00000427721.3:c.412T>A
ENST00000429746.2:c.882T>A	ENSP00000402586.2:p.Cys294Ter
ENST00000433655.6:c.*153T>A	ENSP00000404902.1:n.*153T>A
ENST00000438213.6:c.1104T>A	ENSP00000415036.2:p.Cys368Ter
ENST00000497544.3:n.695T>A
ENST00000636397.1:c.987T>A	ENSP00000489910.1:p.Cys329Ter
ENST00000636571.1:c.966T>A	ENSP00000490770.1:p.Cys322Ter
ENST00000636615.1:c.987T>A	ENSP00000490014.1:p.Cys329Ter
ENST00000636843.1:c.981T>A	ENSP00000490897.1:p.Cys327Ter
ENST00000637158.1:n.585T>A
ENST00000637381.2:n.3415T>A
ENST00000637387.1:c.973-7T>A	ENSP00000490598.1:n.973-7T>A
ENST00000637815.2:c.969T>A	ENSP00000490344.1:p.Cys323Ter
ENST00000637915.1:c.987T>A	ENSP00000490471.1:p.Cys329Ter
ENST00000637937.1:n.295T>A
ENST00000678991.1:c.*848T>A	ENSP00000503019.1:n.*848T>A
ENST00000236671.6:c.987T>A	ENSP00000236671.2:p.Cys329Ter
ENST00000427721.2:c.387T>A	ENSP00000415840.2:p.Cys129Ter
ENST00000429746.1:c.318T>A	ENSP00000402586.1:p.Cys106Ter
ENST00000433655.5:c.*153T>A	ENSP00000404902.1:n.*153T>A
ENST00000497544.1:n.695T>A
NM_001909.4:c.987T>A	NP_001900.1:p.Cys329Ter
NM_001909.5:c.987T>A MANE Select	NP_001900.1:p.Cys329Ter