Canonical Allele Identifier: CA379093351

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775116C>A (hg19) ; chr11:g.1753886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753886C>A , CM000673.2:g.1753886C>A	GRCh38
NC_000011.9:g.1775116C>A , CM000673.1:g.1775116C>A	GRCh37
NC_000011.8:g.1731692C>A	NCBI36
NG_008655.1:g.15107G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.988G>T MANE Select	ENSP00000236671.2:p.Glu330Ter
ENST00000367196.4:c.883G>T	ENSP00000356164.4:p.Glu295Ter
ENST00000427721.3:c.413G>T
ENST00000429746.2:c.883G>T	ENSP00000402586.2:p.Glu295Ter
ENST00000433655.6:c.*154G>T	ENSP00000404902.1:n.*154G>T
ENST00000438213.6:c.1105G>T	ENSP00000415036.2:p.Glu369Ter
ENST00000497544.3:n.696G>T
ENST00000636397.1:c.988G>T	ENSP00000489910.1:p.Glu330Ter
ENST00000636571.1:c.967G>T	ENSP00000490770.1:p.Glu323Ter
ENST00000636615.1:c.988G>T	ENSP00000490014.1:p.Glu330Ter
ENST00000636843.1:c.982G>T	ENSP00000490897.1:p.Glu328Ter
ENST00000637158.1:n.586G>T
ENST00000637381.2:n.3416G>T
ENST00000637387.1:c.973-6G>T	ENSP00000490598.1:n.973-6G>T
ENST00000637815.2:c.970G>T	ENSP00000490344.1:p.Glu324Ter
ENST00000637915.1:c.988G>T	ENSP00000490471.1:p.Glu330Ter
ENST00000637937.1:n.296G>T
ENST00000678991.1:c.*849G>T	ENSP00000503019.1:n.*849G>T
ENST00000236671.6:c.988G>T	ENSP00000236671.2:p.Glu330Ter
ENST00000427721.2:c.388G>T	ENSP00000415840.2:p.Glu130Ter
ENST00000429746.1:c.319G>T	ENSP00000402586.1:p.Glu107Ter
ENST00000433655.5:c.*154G>T	ENSP00000404902.1:n.*154G>T
ENST00000497544.1:n.696G>T
NM_001909.4:c.988G>T	NP_001900.1:p.Glu330Ter
NM_001909.5:c.988G>T MANE Select	NP_001900.1:p.Glu330Ter