Canonical Allele Identifier: CA5813956

Gene: CTSD

Linked Data

• ClinVar Variation Id: 658918
• ClinVar RCV Id: RCV000815835
• dbSNP Id: rs370282882
• ExAC: 11:1775126 C / T
• gnomAD v2: 11-1775126-C-T
• gnomAD v3: 11-1753896-C-T
• gnomAD v4: 11-1753896-C-T
• MyVariant Identifiers: chr11:g.1775126C>T (hg19) ; chr11:g.1753896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753896C>T , CM000673.2:g.1753896C>T	GRCh38
NC_000011.9:g.1775126C>T , CM000673.1:g.1775126C>T	GRCh37
NC_000011.8:g.1731702C>T	NCBI36
NG_008655.1:g.15097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.978G>A MANE Select	ENSP00000236671.2:p.Met326Ile
ENST00000367196.4:c.873G>A	ENSP00000356164.4:p.Met291Ile
ENST00000427721.3:c.403G>A
ENST00000429746.2:c.873G>A	ENSP00000402586.2:p.Met291Ile
ENST00000433655.6:c.*144G>A	ENSP00000404902.1:n.*144G>A
ENST00000438213.6:c.1095G>A	ENSP00000415036.2:p.Met365Ile
ENST00000497544.3:n.686G>A
ENST00000636397.1:c.978G>A	ENSP00000489910.1:p.Met326Ile
ENST00000636571.1:c.957G>A	ENSP00000490770.1:p.Met319Ile
ENST00000636615.1:c.978G>A	ENSP00000490014.1:p.Met326Ile
ENST00000636843.1:c.972G>A	ENSP00000490897.1:p.Met324Ile
ENST00000637158.1:n.576G>A
ENST00000637381.2:n.3406G>A
ENST00000637387.1:c.973-16G>A	ENSP00000490598.1:n.973-16G>A
ENST00000637815.2:c.960G>A	ENSP00000490344.1:p.Met320Ile
ENST00000637915.1:c.978G>A	ENSP00000490471.1:p.Met326Ile
ENST00000637937.1:n.286G>A
ENST00000678991.1:c.*839G>A	ENSP00000503019.1:n.*839G>A
ENST00000236671.6:c.978G>A	ENSP00000236671.2:p.Met326Ile
ENST00000427721.2:c.378G>A	ENSP00000415840.2:p.Met126Ile
ENST00000429746.1:c.309G>A	ENSP00000402586.1:p.Met103Ile
ENST00000433655.5:c.*144G>A	ENSP00000404902.1:n.*144G>A
ENST00000497544.1:n.686G>A
NM_001909.4:c.978G>A	NP_001900.1:p.Met326Ile
NM_001909.5:c.978G>A MANE Select	NP_001900.1:p.Met326Ile