Canonical Allele Identifier: CA379092588

Gene: CTSD

Linked Data

• dbSNP Id: rs1421879206
• gnomAD v2: 11-1774839-G-A
• gnomAD v4: 11-1753609-G-A
• MyVariant Identifiers: chr11:g.1774839G>A (hg19) ; chr11:g.1753609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753609G>A , CM000673.2:g.1753609G>A	GRCh38
NC_000011.9:g.1774839G>A , CM000673.1:g.1774839G>A	GRCh37
NC_000011.8:g.1731415G>A	NCBI36
NG_008655.1:g.15384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1133C>T MANE Select	ENSP00000236671.2:p.Pro378Leu
ENST00000367196.4:c.1028C>T	ENSP00000356164.4:p.Pro343Leu
ENST00000427721.3:c.558C>T
ENST00000429746.2:c.1028C>T	ENSP00000402586.2:p.Pro343Leu
ENST00000433655.6:c.*299C>T	ENSP00000404902.1:n.*299C>T
ENST00000438213.6:c.1250C>T	ENSP00000415036.2:p.Pro417Leu
ENST00000636397.1:c.1071+194C>T	ENSP00000489910.1:n.1071+194C>T
ENST00000636571.1:c.1112C>T	ENSP00000490770.1:p.Pro371Leu
ENST00000636579.1:c.72+194C>T	ENSP00000490489.1:n.72+194C>T
ENST00000636615.1:c.1071+194C>T	ENSP00000490014.1:n.1071+194C>T
ENST00000636843.1:c.1127C>T	ENSP00000490897.1:p.Pro376Leu
ENST00000637158.1:n.731C>T
ENST00000637381.2:n.3561C>T
ENST00000637387.1:c.1112C>T	ENSP00000490598.1:p.Pro371Leu
ENST00000637815.2:c.1115C>T	ENSP00000490344.1:p.Pro372Leu
ENST00000637915.1:c.1124C>T	ENSP00000490471.1:p.Pro375Leu
ENST00000637937.1:n.441C>T
ENST00000678991.1:c.*994C>T	ENSP00000503019.1:n.*994C>T
ENST00000236671.6:c.1133C>T	ENSP00000236671.2:p.Pro378Leu
ENST00000427721.2:c.471+194C>T	ENSP00000415840.2:n.471+194C>T
ENST00000429746.1:c.464C>T	ENSP00000402586.1:p.Pro155Leu
ENST00000433655.5:c.*299C>T	ENSP00000404902.1:n.*299C>T
NM_001909.4:c.1133C>T	NP_001900.1:p.Pro378Leu
NM_001909.5:c.1133C>T MANE Select	NP_001900.1:p.Pro378Leu