Canonical Allele Identifier: CA5813848

Gene: CTSD

Linked Data

• dbSNP Id: rs372339657
• ExAC: 11:1774683 G / A
• gnomAD v2: 11-1774683-G-A
• gnomAD v3: 11-1753453-G-A
• gnomAD v4: 11-1753453-G-A
• MyVariant Identifiers: chr11:g.1774683G>A (hg19) ; chr11:g.1753453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753453G>A , CM000673.2:g.1753453G>A	GRCh38
NC_000011.9:g.1774683G>A , CM000673.1:g.1774683G>A	GRCh37
NC_000011.8:g.1731259G>A	NCBI36
NG_008655.1:g.15540C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*50C>T MANE Select	ENSP00000236671.2:n.*50C>T
ENST00000367196.4:c.*50C>T	ENSP00000356164.4:n.*50C>T
ENST00000427721.3:c.634+80C>T
ENST00000429746.2:c.*50C>T	ENSP00000402586.2:n.*50C>T
ENST00000433655.6:c.*455C>T	ENSP00000404902.1:n.*455C>T
ENST00000438213.6:c.*50C>T	ENSP00000415036.2:n.*50C>T
ENST00000636397.1:c.1071+350C>T	ENSP00000489910.1:n.1071+350C>T
ENST00000636571.1:c.*50C>T	ENSP00000490770.1:n.*50C>T
ENST00000636579.1:c.72+350C>T	ENSP00000490489.1:n.72+350C>T
ENST00000636615.1:c.1071+350C>T	ENSP00000490014.1:n.1071+350C>T
ENST00000636843.1:c.*50C>T	ENSP00000490897.1:n.*50C>T
ENST00000637158.1:n.887C>T
ENST00000637381.2:n.3717C>T
ENST00000637387.1:c.*50C>T	ENSP00000490598.1:n.*50C>T
ENST00000637815.2:c.*50C>T	ENSP00000490344.1:n.*50C>T
ENST00000637915.1:c.*50C>T	ENSP00000490471.1:n.*50C>T
ENST00000637937.1:n.597C>T
ENST00000678991.1:c.*1150C>T	ENSP00000503019.1:n.*1150C>T
ENST00000236671.6:c.*50C>T	ENSP00000236671.2:n.*50C>T
ENST00000427721.2:c.471+350C>T	ENSP00000415840.2:n.471+350C>T
ENST00000429746.1:c.620C>T	ENSP00000402586.1:n.620C>T
ENST00000433655.5:c.*455C>T	ENSP00000404902.1:n.*455C>T
NM_001909.4:c.*50C>T	NP_001900.1:n.*50C>T
NM_001909.5:c.*50C>T MANE Select	NP_001900.1:n.*50C>T