Canonical Allele Identifier: CA674231708

Gene: CTSD

Linked Data

• dbSNP Id: rs12214
• gnomAD v3: 11-1753436-T-G
• gnomAD v4: 11-1753436-T-G
• MyVariant Identifiers: chr11:g.1774666T>G (hg19) ; chr11:g.1753436T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753436T>G , CM000673.2:g.1753436T>G	GRCh38
NC_000011.9:g.1774666T>G , CM000673.1:g.1774666T>G	GRCh37
NC_000011.8:g.1731242T>G	NCBI36
NG_008655.1:g.15557A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*67A>C MANE Select	ENSP00000236671.2:n.*67A>C
ENST00000367196.4:c.*67A>C	ENSP00000356164.4:n.*67A>C
ENST00000427721.3:c.634+97A>C
ENST00000429746.2:c.*67A>C	ENSP00000402586.2:n.*67A>C
ENST00000433655.6:c.*472A>C	ENSP00000404902.1:n.*472A>C
ENST00000438213.6:c.*67A>C	ENSP00000415036.2:n.*67A>C
ENST00000636397.1:c.1071+367A>C	ENSP00000489910.1:n.1071+367A>C
ENST00000636571.1:c.*67A>C	ENSP00000490770.1:n.*67A>C
ENST00000636579.1:c.72+367A>C	ENSP00000490489.1:n.72+367A>C
ENST00000636615.1:c.1071+367A>C	ENSP00000490014.1:n.1071+367A>C
ENST00000636843.1:c.*67A>C	ENSP00000490897.1:n.*67A>C
ENST00000637158.1:n.904A>C
ENST00000637381.2:n.3734A>C
ENST00000637387.1:c.*67A>C	ENSP00000490598.1:n.*67A>C
ENST00000637815.2:c.*67A>C	ENSP00000490344.1:n.*67A>C
ENST00000637915.1:c.*67A>C	ENSP00000490471.1:n.*67A>C
ENST00000637937.1:n.614A>C
ENST00000678991.1:c.*1167A>C	ENSP00000503019.1:n.*1167A>C
ENST00000236671.6:c.*67A>C	ENSP00000236671.2:n.*67A>C
ENST00000427721.2:c.471+367A>C	ENSP00000415840.2:n.471+367A>C
ENST00000429746.1:c.637A>C	ENSP00000402586.1:n.637A>C
ENST00000433655.5:c.*472A>C	ENSP00000404902.1:n.*472A>C
NM_001909.4:c.*67A>C	NP_001900.1:n.*67A>C
NM_001909.5:c.*67A>C MANE Select	NP_001900.1:n.*67A>C