Canonical Allele Identifier: CA379092748

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774882T>C (hg19) ; chr11:g.1753652T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753652T>C , CM000673.2:g.1753652T>C	GRCh38
NC_000011.9:g.1774882T>C , CM000673.1:g.1774882T>C	GRCh37
NC_000011.8:g.1731458T>C	NCBI36
NG_008655.1:g.15341A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1090A>G MANE Select	ENSP00000236671.2:p.Thr364Ala
ENST00000367196.4:c.985A>G	ENSP00000356164.4:p.Thr329Ala
ENST00000427721.3:c.515A>G
ENST00000429746.2:c.985A>G	ENSP00000402586.2:p.Thr329Ala
ENST00000433655.6:c.*256A>G	ENSP00000404902.1:n.*256A>G
ENST00000438213.6:c.1207A>G	ENSP00000415036.2:p.Thr403Ala
ENST00000497544.3:n.798A>G
ENST00000636397.1:c.1071+151A>G	ENSP00000489910.1:n.1071+151A>G
ENST00000636571.1:c.1069A>G	ENSP00000490770.1:p.Thr357Ala
ENST00000636579.1:c.72+151A>G	ENSP00000490489.1:n.72+151A>G
ENST00000636615.1:c.1071+151A>G	ENSP00000490014.1:n.1071+151A>G
ENST00000636843.1:c.1084A>G	ENSP00000490897.1:p.Thr362Ala
ENST00000637158.1:n.688A>G
ENST00000637381.2:n.3518A>G
ENST00000637387.1:c.1069A>G	ENSP00000490598.1:p.Thr357Ala
ENST00000637815.2:c.1072A>G	ENSP00000490344.1:p.Thr358Ala
ENST00000637915.1:c.1081A>G	ENSP00000490471.1:p.Thr361Ala
ENST00000637937.1:n.398A>G
ENST00000678991.1:c.*951A>G	ENSP00000503019.1:n.*951A>G
ENST00000236671.6:c.1090A>G	ENSP00000236671.2:p.Thr364Ala
ENST00000427721.2:c.471+151A>G	ENSP00000415840.2:n.471+151A>G
ENST00000429746.1:c.421A>G	ENSP00000402586.1:p.Thr141Ala
ENST00000433655.5:c.*256A>G	ENSP00000404902.1:n.*256A>G
NM_001909.4:c.1090A>G	NP_001900.1:p.Thr364Ala
NM_001909.5:c.1090A>G MANE Select	NP_001900.1:p.Thr364Ala