Canonical Allele Identifier: CA5814276

Gene: CTSD

Linked Data

• dbSNP Id: rs749805002
• ExAC: 11:1782587 T / G
• gnomAD v2: 11-1782587-T-G
• gnomAD v4: 11-1761357-T-G
• MyVariant Identifiers: chr11:g.1782587T>G (hg19) ; chr11:g.1761357T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1761357T>G , CM000673.2:g.1761357T>G	GRCh38
NC_000011.9:g.1782587T>G , CM000673.1:g.1782587T>G	GRCh37
NC_000011.8:g.1739163T>G	NCBI36
NG_008655.1:g.7636A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.180A>C MANE Select	ENSP00000236671.2:p.Pro60=
ENST00000367196.4:c.75A>C	ENSP00000356164.4:p.Pro25=
ENST00000429746.2:c.75A>C	ENSP00000402586.2:p.Pro25=
ENST00000433655.6:c.180A>C	ENSP00000404902.1:p.Pro60=
ENST00000438213.6:c.180A>C	ENSP00000415036.2:p.Pro60=
ENST00000636397.1:c.180A>C	ENSP00000489910.1:p.Pro60=
ENST00000636571.1:c.180A>C	ENSP00000490770.1:p.Pro60=
ENST00000636615.1:c.180A>C	ENSP00000490014.1:p.Pro60=
ENST00000636843.1:c.180A>C	ENSP00000490897.1:p.Pro60=
ENST00000637381.2:n.2608A>C
ENST00000637387.1:c.180A>C	ENSP00000490598.1:p.Pro60=
ENST00000637815.2:c.180A>C	ENSP00000490344.1:p.Pro60=
ENST00000637915.1:c.180A>C	ENSP00000490471.1:p.Pro60=
ENST00000678991.1:c.*41A>C	ENSP00000503019.1:n.*41A>C
ENST00000236671.6:c.180A>C	ENSP00000236671.2:p.Pro60=
ENST00000367196.3:c.75A>C	ENSP00000356164.3:p.Pro25=
ENST00000433655.5:c.180A>C	ENSP00000404902.1:p.Pro60=
ENST00000438213.5:c.135A>C	ENSP00000415036.1:p.Pro45=
NM_001909.4:c.180A>C	NP_001900.1:p.Pro60=
NM_001909.5:c.180A>C MANE Select	NP_001900.1:p.Pro60=