Canonical Allele Identifier: CA597430598

Gene: CTSD

Linked Data

• dbSNP Id: rs904893649
• gnomAD v2: 11-1774705-C-A
• gnomAD v4: 11-1753475-C-A
• MyVariant Identifiers: chr11:g.1774705C>A (hg19) ; chr11:g.1753475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753475C>A , CM000673.2:g.1753475C>A	GRCh38
NC_000011.9:g.1774705C>A , CM000673.1:g.1774705C>A	GRCh37
NC_000011.8:g.1731281C>A	NCBI36
NG_008655.1:g.15518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*28G>T MANE Select	ENSP00000236671.2:n.*28G>T
ENST00000367196.4:c.*28G>T	ENSP00000356164.4:n.*28G>T
ENST00000427721.3:c.634+58G>T
ENST00000429746.2:c.*28G>T	ENSP00000402586.2:n.*28G>T
ENST00000433655.6:c.*433G>T	ENSP00000404902.1:n.*433G>T
ENST00000438213.6:c.*28G>T	ENSP00000415036.2:n.*28G>T
ENST00000636397.1:c.1071+328G>T	ENSP00000489910.1:n.1071+328G>T
ENST00000636571.1:c.*28G>T	ENSP00000490770.1:n.*28G>T
ENST00000636579.1:c.72+328G>T	ENSP00000490489.1:n.72+328G>T
ENST00000636615.1:c.1071+328G>T	ENSP00000490014.1:n.1071+328G>T
ENST00000636843.1:c.*28G>T	ENSP00000490897.1:n.*28G>T
ENST00000637158.1:n.865G>T
ENST00000637381.2:n.3695G>T
ENST00000637387.1:c.*28G>T	ENSP00000490598.1:n.*28G>T
ENST00000637815.2:c.*28G>T	ENSP00000490344.1:n.*28G>T
ENST00000637915.1:c.*28G>T	ENSP00000490471.1:n.*28G>T
ENST00000637937.1:n.575G>T
ENST00000678991.1:c.*1128G>T	ENSP00000503019.1:n.*1128G>T
ENST00000236671.6:c.*28G>T	ENSP00000236671.2:n.*28G>T
ENST00000427721.2:c.471+328G>T	ENSP00000415840.2:n.471+328G>T
ENST00000429746.1:c.598G>T	ENSP00000402586.1:n.598G>T
ENST00000433655.5:c.*433G>T	ENSP00000404902.1:n.*433G>T
NM_001909.4:c.*28G>T	NP_001900.1:n.*28G>T
NM_001909.5:c.*28G>T MANE Select	NP_001900.1:n.*28G>T