Canonical Allele Identifier: CA379093333

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775113T>A (hg19) ; chr11:g.1753883T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753883T>A , CM000673.2:g.1753883T>A	GRCh38
NC_000011.9:g.1775113T>A , CM000673.1:g.1775113T>A	GRCh37
NC_000011.8:g.1731689T>A	NCBI36
NG_008655.1:g.15110A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.991A>T MANE Select	ENSP00000236671.2:p.Lys331Ter
ENST00000367196.4:c.886A>T	ENSP00000356164.4:p.Lys296Ter
ENST00000427721.3:c.416A>T
ENST00000429746.2:c.886A>T	ENSP00000402586.2:p.Lys296Ter
ENST00000433655.6:c.*157A>T	ENSP00000404902.1:n.*157A>T
ENST00000438213.6:c.1108A>T	ENSP00000415036.2:p.Lys370Ter
ENST00000497544.3:n.699A>T
ENST00000636397.1:c.991A>T	ENSP00000489910.1:p.Lys331Ter
ENST00000636571.1:c.970A>T	ENSP00000490770.1:p.Lys324Ter
ENST00000636615.1:c.991A>T	ENSP00000490014.1:p.Lys331Ter
ENST00000636843.1:c.985A>T	ENSP00000490897.1:p.Lys329Ter
ENST00000637158.1:n.589A>T
ENST00000637381.2:n.3419A>T
ENST00000637387.1:c.973-3A>T	ENSP00000490598.1:n.973-3A>T
ENST00000637815.2:c.973A>T	ENSP00000490344.1:p.Lys325Ter
ENST00000637915.1:c.991A>T	ENSP00000490471.1:p.Lys331Ter
ENST00000637937.1:n.299A>T
ENST00000678991.1:c.*852A>T	ENSP00000503019.1:n.*852A>T
ENST00000236671.6:c.991A>T	ENSP00000236671.2:p.Lys331Ter
ENST00000427721.2:c.391A>T	ENSP00000415840.2:p.Lys131Ter
ENST00000429746.1:c.322A>T	ENSP00000402586.1:p.Lys108Ter
ENST00000433655.5:c.*157A>T	ENSP00000404902.1:n.*157A>T
ENST00000497544.1:n.699A>T
NM_001909.4:c.991A>T	NP_001900.1:p.Lys331Ter
NM_001909.5:c.991A>T MANE Select	NP_001900.1:p.Lys331Ter