Canonical Allele Identifier: CA597430620

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1566390
• ClinVar RCV Id: RCV002207388
• dbSNP Id: rs752075136
• gnomAD v2: 11-1775210-C-G
• gnomAD v4: 11-1753980-C-G
• MyVariant Identifiers: chr11:g.1775210C>G (hg19) ; chr11:g.1753980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753980C>G , CM000673.2:g.1753980C>G	GRCh38
NC_000011.9:g.1775210C>G , CM000673.1:g.1775210C>G	GRCh37
NC_000011.8:g.1731786C>G	NCBI36
NG_008655.1:g.15013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+14G>C MANE Select	ENSP00000236671.2:n.972+14G>C
ENST00000367196.4:c.867+14G>C	ENSP00000356164.4:n.867+14G>C
ENST00000427721.3:c.397+14G>C
ENST00000429746.2:c.867+14G>C	ENSP00000402586.2:n.867+14G>C
ENST00000433655.6:c.*138+14G>C	ENSP00000404902.1:n.*138+14G>C
ENST00000438213.6:c.1089+14G>C	ENSP00000415036.2:n.1089+14G>C
ENST00000497544.3:n.602G>C
ENST00000636397.1:c.972+14G>C	ENSP00000489910.1:n.972+14G>C
ENST00000636571.1:c.951+14G>C	ENSP00000490770.1:n.951+14G>C
ENST00000636615.1:c.972+14G>C	ENSP00000490014.1:n.972+14G>C
ENST00000636843.1:c.966+14G>C	ENSP00000490897.1:n.966+14G>C
ENST00000637158.1:n.570+14G>C
ENST00000637381.2:n.3400+14G>C
ENST00000637387.1:c.972+14G>C	ENSP00000490598.1:n.972+14G>C
ENST00000637815.2:c.954+14G>C	ENSP00000490344.1:n.954+14G>C
ENST00000637915.1:c.972+14G>C	ENSP00000490471.1:n.972+14G>C
ENST00000637937.1:n.280+14G>C
ENST00000678991.1:c.*833+14G>C	ENSP00000503019.1:n.*833+14G>C
ENST00000236671.6:c.972+14G>C	ENSP00000236671.2:n.972+14G>C
ENST00000427721.2:c.372+14G>C	ENSP00000415840.2:n.372+14G>C
ENST00000429746.1:c.303+14G>C	ENSP00000402586.1:n.303+14G>C
ENST00000433655.5:c.*138+14G>C	ENSP00000404902.1:n.*138+14G>C
ENST00000497544.1:n.602G>C
NM_001909.4:c.972+14G>C	NP_001900.1:n.972+14G>C
NM_001909.5:c.972+14G>C MANE Select	NP_001900.1:n.972+14G>C