Canonical Allele Identifier: CA5813904

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2142439
• ClinVar RCV Id: RCV003076314
• dbSNP Id: rs370438082
• ExAC: 11:1774917 G / A
• gnomAD v2: 11-1774917-G-A
• gnomAD v3: 11-1753687-G-A
• gnomAD v4: 11-1753687-G-A
• MyVariant Identifiers: chr11:g.1774917G>A (hg19) ; chr11:g.1753687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753687G>A , CM000673.2:g.1753687G>A	GRCh38
NC_000011.9:g.1774917G>A , CM000673.1:g.1774917G>A	GRCh37
NC_000011.8:g.1731493G>A	NCBI36
NG_008655.1:g.15306C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1072-17C>T MANE Select	ENSP00000236671.2:n.1072-17C>T
ENST00000367196.4:c.967-17C>T	ENSP00000356164.4:n.967-17C>T
ENST00000427721.3:c.497-17C>T
ENST00000429746.2:c.967-17C>T	ENSP00000402586.2:n.967-17C>T
ENST00000433655.6:c.*238-17C>T	ENSP00000404902.1:n.*238-17C>T
ENST00000438213.6:c.1189-17C>T	ENSP00000415036.2:n.1189-17C>T
ENST00000497544.3:n.780-17C>T
ENST00000636397.1:c.1071+116C>T	ENSP00000489910.1:n.1071+116C>T
ENST00000636571.1:c.1051-17C>T	ENSP00000490770.1:n.1051-17C>T
ENST00000636579.1:c.72+116C>T	ENSP00000490489.1:n.72+116C>T
ENST00000636615.1:c.1071+116C>T	ENSP00000490014.1:n.1071+116C>T
ENST00000636843.1:c.1066-17C>T	ENSP00000490897.1:n.1066-17C>T
ENST00000637158.1:n.670-17C>T
ENST00000637381.2:n.3500-17C>T
ENST00000637387.1:c.1051-17C>T	ENSP00000490598.1:n.1051-17C>T
ENST00000637815.2:c.1054-17C>T	ENSP00000490344.1:n.1054-17C>T
ENST00000637915.1:c.1072-26C>T	ENSP00000490471.1:n.1072-26C>T
ENST00000637937.1:n.380-17C>T
ENST00000678991.1:c.*933-17C>T	ENSP00000503019.1:n.*933-17C>T
ENST00000236671.6:c.1072-17C>T	ENSP00000236671.2:n.1072-17C>T
ENST00000427721.2:c.471+116C>T	ENSP00000415840.2:n.471+116C>T
ENST00000429746.1:c.403-17C>T	ENSP00000402586.1:n.403-17C>T
ENST00000433655.5:c.*238-17C>T	ENSP00000404902.1:n.*238-17C>T
NM_001909.4:c.1072-17C>T	NP_001900.1:n.1072-17C>T
NM_001909.5:c.1072-17C>T MANE Select	NP_001900.1:n.1072-17C>T