Canonical Allele Identifier: CA472140555
Gene: CTSD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.1774841T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753611T>G , CM000673.2:g.1753611T>G GRCh38
NC_000011.9:g.1774841T>G , CM000673.1:g.1774841T>G GRCh37
NC_000011.8:g.1731417T>G NCBI36
NG_008655.1:g.15382A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.1131A>C MANE Select ENSP00000236671.2:p.Pro377=
ENST00000367196.4:c.1026A>C ENSP00000356164.4:p.Pro342=
ENST00000427721.3:c.556A>C
ENST00000429746.2:c.1026A>C ENSP00000402586.2:p.Pro342=
ENST00000433655.6:c.*297A>C ENSP00000404902.1:n.*297A>C
ENST00000438213.6:c.1248A>C ENSP00000415036.2:p.Pro416=
ENST00000636397.1:c.1071+192A>C ENSP00000489910.1:n.1071+192A>C
ENST00000636571.1:c.1110A>C ENSP00000490770.1:p.Pro370=
ENST00000636579.1:c.72+192A>C ENSP00000490489.1:n.72+192A>C
ENST00000636615.1:c.1071+192A>C ENSP00000490014.1:n.1071+192A>C
ENST00000636843.1:c.1125A>C ENSP00000490897.1:p.Pro375=
ENST00000637158.1:n.729A>C
ENST00000637381.2:n.3559A>C
ENST00000637387.1:c.1110A>C ENSP00000490598.1:p.Pro370=
ENST00000637815.2:c.1113A>C ENSP00000490344.1:p.Pro371=
ENST00000637915.1:c.1122A>C ENSP00000490471.1:p.Pro374=
ENST00000637937.1:n.439A>C
ENST00000678991.1:c.*992A>C ENSP00000503019.1:n.*992A>C
ENST00000236671.6:c.1131A>C ENSP00000236671.2:p.Pro377=
ENST00000427721.2:c.471+192A>C ENSP00000415840.2:n.471+192A>C
ENST00000429746.1:c.462A>C ENSP00000402586.1:p.Pro154=
ENST00000433655.5:c.*297A>C ENSP00000404902.1:n.*297A>C
NM_001909.4:c.1131A>C NP_001900.1:p.Pro377=
NM_001909.5:c.1131A>C MANE Select NP_001900.1:p.Pro377=