Canonical Allele Identifier: CA379092378

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774771T>A (hg19) ; chr11:g.1753541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753541T>A , CM000673.2:g.1753541T>A	GRCh38
NC_000011.9:g.1774771T>A , CM000673.1:g.1774771T>A	GRCh37
NC_000011.8:g.1731347T>A	NCBI36
NG_008655.1:g.15452A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1201A>T MANE Select	ENSP00000236671.2:p.Asn401Tyr
ENST00000367196.4:c.1096A>T	ENSP00000356164.4:p.Asn366Tyr
ENST00000427721.3:c.626A>T
ENST00000429746.2:c.1096A>T	ENSP00000402586.2:p.Asn366Tyr
ENST00000433655.6:c.*367A>T	ENSP00000404902.1:n.*367A>T
ENST00000438213.6:c.1318A>T	ENSP00000415036.2:p.Asn440Tyr
ENST00000636397.1:c.1071+262A>T	ENSP00000489910.1:n.1071+262A>T
ENST00000636571.1:c.1180A>T	ENSP00000490770.1:p.Asn394Tyr
ENST00000636579.1:c.72+262A>T	ENSP00000490489.1:n.72+262A>T
ENST00000636615.1:c.1071+262A>T	ENSP00000490014.1:n.1071+262A>T
ENST00000636843.1:c.1195A>T	ENSP00000490897.1:p.Asn399Tyr
ENST00000637158.1:n.799A>T
ENST00000637381.2:n.3629A>T
ENST00000637387.1:c.1180A>T	ENSP00000490598.1:p.Asn394Tyr
ENST00000637815.2:c.1183A>T	ENSP00000490344.1:p.Asn395Tyr
ENST00000637915.1:c.1192A>T	ENSP00000490471.1:p.Asn398Tyr
ENST00000637937.1:n.509A>T
ENST00000678991.1:c.*1062A>T	ENSP00000503019.1:n.*1062A>T
ENST00000236671.6:c.1201A>T	ENSP00000236671.2:p.Asn401Tyr
ENST00000427721.2:c.471+262A>T	ENSP00000415840.2:n.471+262A>T
ENST00000429746.1:c.532A>T	ENSP00000402586.1:p.Asn178Tyr
ENST00000433655.5:c.*367A>T	ENSP00000404902.1:n.*367A>T
NM_001909.4:c.1201A>T	NP_001900.1:p.Asn401Tyr
NM_001909.5:c.1201A>T MANE Select	NP_001900.1:p.Asn401Tyr