Canonical Allele Identifier: CA471983565

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2135664
• ClinVar RCV Id: RCV003059674
• MyVariant Identifiers: chr11:g.1776207G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754977G>A , CM000673.2:g.1754977G>A	GRCh38
NC_000011.9:g.1776207G>A , CM000673.1:g.1776207G>A	GRCh37
NC_000011.8:g.1732783G>A	NCBI36
NG_008655.1:g.14016C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.756C>T MANE Select	ENSP00000236671.2:p.Ser252=
ENST00000367196.4:c.651C>T	ENSP00000356164.4:p.Ser217=
ENST00000427721.3:c.181C>T
ENST00000429746.2:c.651C>T	ENSP00000402586.2:p.Ser217=
ENST00000433655.6:c.756C>T	ENSP00000404902.1:p.Ser252=
ENST00000438213.6:c.756C>T	ENSP00000415036.2:p.Ser252=
ENST00000497544.3:n.372C>T
ENST00000636397.1:c.756C>T	ENSP00000489910.1:p.Ser252=
ENST00000636571.1:c.735C>T	ENSP00000490770.1:p.Ser245=
ENST00000636615.1:c.756C>T	ENSP00000490014.1:p.Ser252=
ENST00000636843.1:c.750C>T	ENSP00000490897.1:p.Ser250=
ENST00000637158.1:n.354C>T
ENST00000637381.2:n.3184C>T
ENST00000637387.1:c.756C>T	ENSP00000490598.1:p.Ser252=
ENST00000637815.2:c.756C>T	ENSP00000490344.1:p.Ser252=
ENST00000637915.1:c.756C>T	ENSP00000490471.1:p.Ser252=
ENST00000637937.1:n.64C>T
ENST00000678991.1:c.*617C>T	ENSP00000503019.1:n.*617C>T
ENST00000236671.6:c.756C>T	ENSP00000236671.2:p.Ser252=
ENST00000427721.2:c.156C>T	ENSP00000415840.2:p.Ser52=
ENST00000433655.5:c.756C>T	ENSP00000404902.1:p.Ser252=
ENST00000438213.5:c.711C>T	ENSP00000415036.1:p.Ser237=
ENST00000497544.1:n.372C>T
NM_001909.4:c.756C>T	NP_001900.1:p.Ser252=
NM_001909.5:c.756C>T MANE Select	NP_001900.1:p.Ser252=