Canonical Allele Identifier: CA597430595

Gene: CTSD

Linked Data

• dbSNP Id: rs1565018332
• gnomAD v2: 11-1774687-T-G
• gnomAD v4: 11-1753457-T-G
• MyVariant Identifiers: chr11:g.1774687T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753457T>G , CM000673.2:g.1753457T>G	GRCh38
NC_000011.9:g.1774687T>G , CM000673.1:g.1774687T>G	GRCh37
NC_000011.8:g.1731263T>G	NCBI36
NG_008655.1:g.15536A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*46A>C MANE Select	ENSP00000236671.2:n.*46A>C
ENST00000367196.4:c.*46A>C	ENSP00000356164.4:n.*46A>C
ENST00000427721.3:c.634+76A>C
ENST00000429746.2:c.*46A>C	ENSP00000402586.2:n.*46A>C
ENST00000433655.6:c.*451A>C	ENSP00000404902.1:n.*451A>C
ENST00000438213.6:c.*46A>C	ENSP00000415036.2:n.*46A>C
ENST00000636397.1:c.1071+346A>C	ENSP00000489910.1:n.1071+346A>C
ENST00000636571.1:c.*46A>C	ENSP00000490770.1:n.*46A>C
ENST00000636579.1:c.72+346A>C	ENSP00000490489.1:n.72+346A>C
ENST00000636615.1:c.1071+346A>C	ENSP00000490014.1:n.1071+346A>C
ENST00000636843.1:c.*46A>C	ENSP00000490897.1:n.*46A>C
ENST00000637158.1:n.883A>C
ENST00000637381.2:n.3713A>C
ENST00000637387.1:c.*46A>C	ENSP00000490598.1:n.*46A>C
ENST00000637815.2:c.*46A>C	ENSP00000490344.1:n.*46A>C
ENST00000637915.1:c.*46A>C	ENSP00000490471.1:n.*46A>C
ENST00000637937.1:n.593A>C
ENST00000678991.1:c.*1146A>C	ENSP00000503019.1:n.*1146A>C
ENST00000236671.6:c.*46A>C	ENSP00000236671.2:n.*46A>C
ENST00000427721.2:c.471+346A>C	ENSP00000415840.2:n.471+346A>C
ENST00000429746.1:c.616A>C	ENSP00000402586.1:n.616A>C
ENST00000433655.5:c.*451A>C	ENSP00000404902.1:n.*451A>C
NM_001909.4:c.*46A>C	NP_001900.1:n.*46A>C
NM_001909.5:c.*46A>C MANE Select	NP_001900.1:n.*46A>C