Canonical Allele Identifier: CA379092397

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774780C>A (hg19) ; chr11:g.1753550C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753550C>A , CM000673.2:g.1753550C>A	GRCh38
NC_000011.9:g.1774780C>A , CM000673.1:g.1774780C>A	GRCh37
NC_000011.8:g.1731356C>A	NCBI36
NG_008655.1:g.15443G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1192G>T MANE Select	ENSP00000236671.2:p.Asp398Tyr
ENST00000367196.4:c.1087G>T	ENSP00000356164.4:p.Asp363Tyr
ENST00000427721.3:c.617G>T
ENST00000429746.2:c.1087G>T	ENSP00000402586.2:p.Asp363Tyr
ENST00000433655.6:c.*358G>T	ENSP00000404902.1:n.*358G>T
ENST00000438213.6:c.1309G>T	ENSP00000415036.2:p.Asp437Tyr
ENST00000636397.1:c.1071+253G>T	ENSP00000489910.1:n.1071+253G>T
ENST00000636571.1:c.1171G>T	ENSP00000490770.1:p.Asp391Tyr
ENST00000636579.1:c.72+253G>T	ENSP00000490489.1:n.72+253G>T
ENST00000636615.1:c.1071+253G>T	ENSP00000490014.1:n.1071+253G>T
ENST00000636843.1:c.1186G>T	ENSP00000490897.1:p.Asp396Tyr
ENST00000637158.1:n.790G>T
ENST00000637381.2:n.3620G>T
ENST00000637387.1:c.1171G>T	ENSP00000490598.1:p.Asp391Tyr
ENST00000637815.2:c.1174G>T	ENSP00000490344.1:p.Asp392Tyr
ENST00000637915.1:c.1183G>T	ENSP00000490471.1:p.Asp395Tyr
ENST00000637937.1:n.500G>T
ENST00000678991.1:c.*1053G>T	ENSP00000503019.1:n.*1053G>T
ENST00000236671.6:c.1192G>T	ENSP00000236671.2:p.Asp398Tyr
ENST00000427721.2:c.471+253G>T	ENSP00000415840.2:n.471+253G>T
ENST00000429746.1:c.523G>T	ENSP00000402586.1:p.Asp175Tyr
ENST00000433655.5:c.*358G>T	ENSP00000404902.1:n.*358G>T
NM_001909.4:c.1192G>T	NP_001900.1:p.Asp398Tyr
NM_001909.5:c.1192G>T MANE Select	NP_001900.1:p.Asp398Tyr