Canonical Allele Identifier: CA379095983
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1757400T>G , CM000673.2:g.1757400T>G GRCh38
NC_000011.9:g.1778630T>G , CM000673.1:g.1778630T>G GRCh37
NC_000011.8:g.1735206T>G NCBI36
NG_008655.1:g.11593A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.628A>C MANE Select ENSP00000236671.2:p.Asn210His
ENST00000367196.4:c.523A>C ENSP00000356164.4:p.Asn175His
ENST00000427721.3:c.53A>C
ENST00000429746.2:c.523A>C ENSP00000402586.2:p.Asn175His
ENST00000433655.6:c.628A>C ENSP00000404902.1:p.Asn210His
ENST00000438213.6:c.628A>C ENSP00000415036.2:p.Asn210His
ENST00000636397.1:c.628A>C ENSP00000489910.1:p.Asn210His
ENST00000636571.1:c.607A>C ENSP00000490770.1:p.Asn203His
ENST00000636615.1:c.628A>C ENSP00000490014.1:p.Asn210His
ENST00000636843.1:c.622A>C ENSP00000490897.1:p.Asn208His
ENST00000637158.1:n.226A>C
ENST00000637381.2:n.3056A>C
ENST00000637387.1:c.628A>C ENSP00000490598.1:p.Asn210His
ENST00000637815.2:c.628A>C ENSP00000490344.1:p.Asn210His
ENST00000637915.1:c.628A>C ENSP00000490471.1:p.Asn210His
ENST00000677300.1:n.1023A>C
ENST00000678991.1:c.*489A>C ENSP00000503019.1:n.*489A>C
ENST00000236671.6:c.628A>C ENSP00000236671.2:p.Asn210His
ENST00000367196.3:c.523A>C ENSP00000356164.3:p.Asn175His
ENST00000427721.2:c.28A>C ENSP00000415840.2:p.Asn10His
ENST00000433655.5:c.628A>C ENSP00000404902.1:p.Asn210His
ENST00000438213.5:c.583A>C ENSP00000415036.1:p.Asn195His
NM_001909.4:c.628A>C NP_001900.1:p.Asn210His
NM_001909.5:c.628A>C MANE Select NP_001900.1:p.Asn210His