Canonical Allele Identifier: CA471988623
Gene: CTSD HGNC NCBI

Linked Data

dbSNP Id: rs2133664312
MyVariant Identifiers: chr11:g.1780840C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1759610C>G , CM000673.2:g.1759610C>G GRCh38
NC_000011.9:g.1780840C>G , CM000673.1:g.1780840C>G GRCh37
NC_000011.8:g.1737416C>G NCBI36
NG_008655.1:g.9383G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.258G>C MANE Select ENSP00000236671.2:p.Gly86=
ENST00000367196.4:c.153G>C ENSP00000356164.4:p.Gly51=
ENST00000429746.2:c.153G>C ENSP00000402586.2:p.Gly51=
ENST00000433655.6:c.258G>C ENSP00000404902.1:p.Gly86=
ENST00000438213.6:c.258G>C ENSP00000415036.2:p.Gly86=
ENST00000636397.1:c.258G>C ENSP00000489910.1:p.Gly86=
ENST00000636571.1:c.237G>C ENSP00000490770.1:p.Gly79=
ENST00000636615.1:c.258G>C ENSP00000490014.1:p.Gly86=
ENST00000636843.1:c.252G>C ENSP00000490897.1:p.Gly84=
ENST00000637381.2:n.2686G>C
ENST00000637387.1:c.258G>C ENSP00000490598.1:p.Gly86=
ENST00000637815.2:c.258G>C ENSP00000490344.1:p.Gly86=
ENST00000637915.1:c.258G>C ENSP00000490471.1:p.Gly86=
ENST00000677300.1:n.653G>C
ENST00000678991.1:c.*119G>C ENSP00000503019.1:n.*119G>C
ENST00000236671.6:c.258G>C ENSP00000236671.2:p.Gly86=
ENST00000367196.3:c.153G>C ENSP00000356164.3:p.Gly51=
ENST00000433655.5:c.258G>C ENSP00000404902.1:p.Gly86=
ENST00000438213.5:c.213G>C ENSP00000415036.1:p.Gly71=
NM_001909.4:c.258G>C NP_001900.1:p.Gly86=
NM_001909.5:c.258G>C MANE Select NP_001900.1:p.Gly86=