Canonical Allele Identifier: CA379092622

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774848A>T (hg19) ; chr11:g.1753618A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753618A>T , CM000673.2:g.1753618A>T	GRCh38
NC_000011.9:g.1774848A>T , CM000673.1:g.1774848A>T	GRCh37
NC_000011.8:g.1731424A>T	NCBI36
NG_008655.1:g.15375T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1124T>A MANE Select	ENSP00000236671.2:p.Ile375Asn
ENST00000367196.4:c.1019T>A	ENSP00000356164.4:p.Ile340Asn
ENST00000427721.3:c.549T>A
ENST00000429746.2:c.1019T>A	ENSP00000402586.2:p.Ile340Asn
ENST00000433655.6:c.*290T>A	ENSP00000404902.1:n.*290T>A
ENST00000438213.6:c.1241T>A	ENSP00000415036.2:p.Ile414Asn
ENST00000636397.1:c.1071+185T>A	ENSP00000489910.1:n.1071+185T>A
ENST00000636571.1:c.1103T>A	ENSP00000490770.1:p.Ile368Asn
ENST00000636579.1:c.72+185T>A	ENSP00000490489.1:n.72+185T>A
ENST00000636615.1:c.1071+185T>A	ENSP00000490014.1:n.1071+185T>A
ENST00000636843.1:c.1118T>A	ENSP00000490897.1:p.Ile373Asn
ENST00000637158.1:n.722T>A
ENST00000637381.2:n.3552T>A
ENST00000637387.1:c.1103T>A	ENSP00000490598.1:p.Ile368Asn
ENST00000637815.2:c.1106T>A	ENSP00000490344.1:p.Ile369Asn
ENST00000637915.1:c.1115T>A	ENSP00000490471.1:p.Ile372Asn
ENST00000637937.1:n.432T>A
ENST00000678991.1:c.*985T>A	ENSP00000503019.1:n.*985T>A
ENST00000236671.6:c.1124T>A	ENSP00000236671.2:p.Ile375Asn
ENST00000427721.2:c.471+185T>A	ENSP00000415840.2:n.471+185T>A
ENST00000429746.1:c.455T>A	ENSP00000402586.1:p.Ile152Asn
ENST00000433655.5:c.*290T>A	ENSP00000404902.1:n.*290T>A
NM_001909.4:c.1124T>A	NP_001900.1:p.Ile375Asn
NM_001909.5:c.1124T>A MANE Select	NP_001900.1:p.Ile375Asn