Canonical Allele Identifier: CA379093338

Gene: CTSD

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.991A>C MANE Select	ENSP00000236671.2:p.Lys331Gln
ENST00000367196.4:c.886A>C	ENSP00000356164.4:p.Lys296Gln
ENST00000427721.3:c.416A>C
ENST00000429746.2:c.886A>C	ENSP00000402586.2:p.Lys296Gln
ENST00000433655.6:c.*157A>C	ENSP00000404902.1:n.*157A>C
ENST00000438213.6:c.1108A>C	ENSP00000415036.2:p.Lys370Gln
ENST00000497544.3:n.699A>C
ENST00000636397.1:c.991A>C	ENSP00000489910.1:p.Lys331Gln
ENST00000636571.1:c.970A>C	ENSP00000490770.1:p.Lys324Gln
ENST00000636615.1:c.991A>C	ENSP00000490014.1:p.Lys331Gln
ENST00000636843.1:c.985A>C	ENSP00000490897.1:p.Lys329Gln
ENST00000637158.1:n.589A>C
ENST00000637381.2:n.3419A>C
ENST00000637387.1:c.973-3A>C	ENSP00000490598.1:n.973-3A>C
ENST00000637815.2:c.973A>C	ENSP00000490344.1:p.Lys325Gln
ENST00000637915.1:c.991A>C	ENSP00000490471.1:p.Lys331Gln
ENST00000637937.1:n.299A>C
ENST00000678991.1:c.*852A>C	ENSP00000503019.1:n.*852A>C
ENST00000236671.6:c.991A>C	ENSP00000236671.2:p.Lys331Gln
ENST00000427721.2:c.391A>C	ENSP00000415840.2:p.Lys131Gln
ENST00000429746.1:c.322A>C	ENSP00000402586.1:p.Lys108Gln
ENST00000433655.5:c.*157A>C	ENSP00000404902.1:n.*157A>C
ENST00000497544.1:n.699A>C
NM_001909.4:c.991A>C	NP_001900.1:p.Lys331Gln
NM_001909.5:c.991A>C MANE Select	NP_001900.1:p.Lys331Gln