Canonical Allele Identifier: CA597430596

Gene: CTSD

Linked Data

• dbSNP Id: rs1324285475
• gnomAD v2: 11-1774690-G-A
• gnomAD v4: 11-1753460-G-A
• MyVariant Identifiers: chr11:g.1774690G>A (hg19) ; chr11:g.1753460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753460G>A , CM000673.2:g.1753460G>A	GRCh38
NC_000011.9:g.1774690G>A , CM000673.1:g.1774690G>A	GRCh37
NC_000011.8:g.1731266G>A	NCBI36
NG_008655.1:g.15533C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*43C>T MANE Select	ENSP00000236671.2:n.*43C>T
ENST00000367196.4:c.*43C>T	ENSP00000356164.4:n.*43C>T
ENST00000427721.3:c.634+73C>T
ENST00000429746.2:c.*43C>T	ENSP00000402586.2:n.*43C>T
ENST00000433655.6:c.*448C>T	ENSP00000404902.1:n.*448C>T
ENST00000438213.6:c.*43C>T	ENSP00000415036.2:n.*43C>T
ENST00000636397.1:c.1071+343C>T	ENSP00000489910.1:n.1071+343C>T
ENST00000636571.1:c.*43C>T	ENSP00000490770.1:n.*43C>T
ENST00000636579.1:c.72+343C>T	ENSP00000490489.1:n.72+343C>T
ENST00000636615.1:c.1071+343C>T	ENSP00000490014.1:n.1071+343C>T
ENST00000636843.1:c.*43C>T	ENSP00000490897.1:n.*43C>T
ENST00000637158.1:n.880C>T
ENST00000637381.2:n.3710C>T
ENST00000637387.1:c.*43C>T	ENSP00000490598.1:n.*43C>T
ENST00000637815.2:c.*43C>T	ENSP00000490344.1:n.*43C>T
ENST00000637915.1:c.*43C>T	ENSP00000490471.1:n.*43C>T
ENST00000637937.1:n.590C>T
ENST00000678991.1:c.*1143C>T	ENSP00000503019.1:n.*1143C>T
ENST00000236671.6:c.*43C>T	ENSP00000236671.2:n.*43C>T
ENST00000427721.2:c.471+343C>T	ENSP00000415840.2:n.471+343C>T
ENST00000429746.1:c.613C>T	ENSP00000402586.1:n.613C>T
ENST00000433655.5:c.*448C>T	ENSP00000404902.1:n.*448C>T
NM_001909.4:c.*43C>T	NP_001900.1:n.*43C>T
NM_001909.5:c.*43C>T MANE Select	NP_001900.1:n.*43C>T