Canonical Allele Identifier: CA379093298

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775103G>A (hg19) ; chr11:g.1753873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753873G>A , CM000673.2:g.1753873G>A	GRCh38
NC_000011.9:g.1775103G>A , CM000673.1:g.1775103G>A	GRCh37
NC_000011.8:g.1731679G>A	NCBI36
NG_008655.1:g.15120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1001C>T MANE Select	ENSP00000236671.2:p.Thr334Ile
ENST00000367196.4:c.896C>T	ENSP00000356164.4:p.Thr299Ile
ENST00000427721.3:c.426C>T
ENST00000429746.2:c.896C>T	ENSP00000402586.2:p.Thr299Ile
ENST00000433655.6:c.*167C>T	ENSP00000404902.1:n.*167C>T
ENST00000438213.6:c.1118C>T	ENSP00000415036.2:p.Thr373Ile
ENST00000497544.3:n.709C>T
ENST00000636397.1:c.1001C>T	ENSP00000489910.1:p.Thr334Ile
ENST00000636571.1:c.980C>T	ENSP00000490770.1:p.Thr327Ile
ENST00000636579.1:c.2C>T	ENSP00000490489.1:p.Thr1Ile
ENST00000636615.1:c.1001C>T	ENSP00000490014.1:p.Thr334Ile
ENST00000636843.1:c.995C>T	ENSP00000490897.1:p.Thr332Ile
ENST00000637158.1:n.599C>T
ENST00000637381.2:n.3429C>T
ENST00000637387.1:c.980C>T	ENSP00000490598.1:p.Thr327Ile
ENST00000637815.2:c.983C>T	ENSP00000490344.1:p.Thr328Ile
ENST00000637915.1:c.1001C>T	ENSP00000490471.1:p.Thr334Ile
ENST00000637937.1:n.309C>T
ENST00000678991.1:c.*862C>T	ENSP00000503019.1:n.*862C>T
ENST00000236671.6:c.1001C>T	ENSP00000236671.2:p.Thr334Ile
ENST00000427721.2:c.401C>T	ENSP00000415840.2:p.Thr134Ile
ENST00000429746.1:c.332C>T	ENSP00000402586.1:p.Thr111Ile
ENST00000433655.5:c.*167C>T	ENSP00000404902.1:n.*167C>T
ENST00000497544.1:n.709C>T
NM_001909.4:c.1001C>T	NP_001900.1:p.Thr334Ile
NM_001909.5:c.1001C>T MANE Select	NP_001900.1:p.Thr334Ile