Canonical Allele Identifier: CA379093694

Gene: CTSD

Linked Data

• dbSNP Id: rs1845763335
• MyVariant Identifiers: chr11:g.1775258T>G (hg19) ; chr11:g.1754028T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754028T>G , CM000673.2:g.1754028T>G	GRCh38
NC_000011.9:g.1775258T>G , CM000673.1:g.1775258T>G	GRCh37
NC_000011.8:g.1731834T>G	NCBI36
NG_008655.1:g.14965A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.938A>C MANE Select	ENSP00000236671.2:p.Lys313Thr
ENST00000367196.4:c.833A>C	ENSP00000356164.4:p.Lys278Thr
ENST00000427721.3:c.363A>C
ENST00000429746.2:c.833A>C	ENSP00000402586.2:p.Lys278Thr
ENST00000433655.6:c.*104A>C	ENSP00000404902.1:n.*104A>C
ENST00000438213.6:c.1055A>C	ENSP00000415036.2:p.Lys352Thr
ENST00000497544.3:n.554A>C
ENST00000636397.1:c.938A>C	ENSP00000489910.1:p.Lys313Thr
ENST00000636571.1:c.917A>C	ENSP00000490770.1:p.Lys306Thr
ENST00000636615.1:c.938A>C	ENSP00000490014.1:p.Lys313Thr
ENST00000636843.1:c.932A>C	ENSP00000490897.1:p.Lys311Thr
ENST00000637158.1:n.536A>C
ENST00000637381.2:n.3366A>C
ENST00000637387.1:c.938A>C	ENSP00000490598.1:p.Lys313Thr
ENST00000637815.2:c.920A>C	ENSP00000490344.1:p.Lys307Thr
ENST00000637915.1:c.938A>C	ENSP00000490471.1:p.Lys313Thr
ENST00000637937.1:n.246A>C
ENST00000678991.1:c.*799A>C	ENSP00000503019.1:n.*799A>C
ENST00000236671.6:c.938A>C	ENSP00000236671.2:p.Lys313Thr
ENST00000427721.2:c.338A>C	ENSP00000415840.2:p.Lys113Thr
ENST00000429746.1:c.269A>C	ENSP00000402586.1:p.Lys90Thr
ENST00000433655.5:c.*104A>C	ENSP00000404902.1:n.*104A>C
ENST00000438213.5:c.893A>C	ENSP00000415036.1:p.Lys298Thr
ENST00000497544.1:n.554A>C
NM_001909.4:c.938A>C	NP_001900.1:p.Lys313Thr
NM_001909.5:c.938A>C MANE Select	NP_001900.1:p.Lys313Thr