Canonical Allele Identifier: CA379092301

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774733C>A (hg19) ; chr11:g.1753503C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753503C>A , CM000673.2:g.1753503C>A	GRCh38
NC_000011.9:g.1774733C>A , CM000673.1:g.1774733C>A	GRCh37
NC_000011.8:g.1731309C>A	NCBI36
NG_008655.1:g.15490G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1239G>T MANE Select	ENSP00000236671.2:p.Ter413Tyr
ENST00000367196.4:c.1134G>T	ENSP00000356164.4:p.Ter378Tyr
ENST00000427721.3:c.634+30G>T
ENST00000429746.2:c.1134G>T	ENSP00000402586.2:p.Ter378Tyr
ENST00000433655.6:c.*405G>T	ENSP00000404902.1:n.*405G>T
ENST00000438213.6:c.1356G>T	ENSP00000415036.2:p.Ter452Tyr
ENST00000636397.1:c.1071+300G>T	ENSP00000489910.1:n.1071+300G>T
ENST00000636571.1:c.1218G>T	ENSP00000490770.1:p.Ter406Tyr
ENST00000636579.1:c.72+300G>T	ENSP00000490489.1:n.72+300G>T
ENST00000636615.1:c.1071+300G>T	ENSP00000490014.1:n.1071+300G>T
ENST00000636843.1:c.1233G>T	ENSP00000490897.1:p.Ter411Tyr
ENST00000637158.1:n.837G>T
ENST00000637381.2:n.3667G>T
ENST00000637387.1:c.1218G>T	ENSP00000490598.1:p.Ter406Tyr
ENST00000637815.2:c.1221G>T	ENSP00000490344.1:p.Ter407Tyr
ENST00000637915.1:c.1230G>T	ENSP00000490471.1:p.Ter410Tyr
ENST00000637937.1:n.547G>T
ENST00000678991.1:c.*1100G>T	ENSP00000503019.1:n.*1100G>T
ENST00000236671.6:c.1239G>T	ENSP00000236671.2:p.Ter413Tyr
ENST00000427721.2:c.471+300G>T	ENSP00000415840.2:n.471+300G>T
ENST00000429746.1:c.570G>T	ENSP00000402586.1:p.Ter190Tyr
ENST00000433655.5:c.*405G>T	ENSP00000404902.1:n.*405G>T
NM_001909.4:c.1239G>T	NP_001900.1:p.Ter413Tyr
NM_001909.5:c.1239G>T MANE Select	NP_001900.1:p.Ter413Tyr