Canonical Allele Identifier: CA379093523

Gene: CTSD

Linked Data

• dbSNP Id: rs1845762720
• gnomAD v4: 11-1754001-T-A
• MyVariant Identifiers: chr11:g.1775231T>A (hg19) ; chr11:g.1754001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754001T>A , CM000673.2:g.1754001T>A	GRCh38
NC_000011.9:g.1775231T>A , CM000673.1:g.1775231T>A	GRCh37
NC_000011.8:g.1731807T>A	NCBI36
NG_008655.1:g.14992A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.965A>T MANE Select	ENSP00000236671.2:p.Gln322Leu
ENST00000367196.4:c.860A>T	ENSP00000356164.4:p.Gln287Leu
ENST00000427721.3:c.390A>T
ENST00000429746.2:c.860A>T	ENSP00000402586.2:p.Gln287Leu
ENST00000433655.6:c.*131A>T	ENSP00000404902.1:n.*131A>T
ENST00000438213.6:c.1082A>T	ENSP00000415036.2:p.Gln361Leu
ENST00000497544.3:n.581A>T
ENST00000636397.1:c.965A>T	ENSP00000489910.1:p.Gln322Leu
ENST00000636571.1:c.944A>T	ENSP00000490770.1:p.Gln315Leu
ENST00000636615.1:c.965A>T	ENSP00000490014.1:p.Gln322Leu
ENST00000636843.1:c.959A>T	ENSP00000490897.1:p.Gln320Leu
ENST00000637158.1:n.563A>T
ENST00000637381.2:n.3393A>T
ENST00000637387.1:c.965A>T	ENSP00000490598.1:p.Gln322Leu
ENST00000637815.2:c.947A>T	ENSP00000490344.1:p.Gln316Leu
ENST00000637915.1:c.965A>T	ENSP00000490471.1:p.Gln322Leu
ENST00000637937.1:n.273A>T
ENST00000678991.1:c.*826A>T	ENSP00000503019.1:n.*826A>T
ENST00000236671.6:c.965A>T	ENSP00000236671.2:p.Gln322Leu
ENST00000427721.2:c.365A>T	ENSP00000415840.2:p.Gln122Leu
ENST00000429746.1:c.296A>T	ENSP00000402586.1:p.Gln99Leu
ENST00000433655.5:c.*131A>T	ENSP00000404902.1:n.*131A>T
ENST00000497544.1:n.581A>T
NM_001909.4:c.965A>T	NP_001900.1:p.Gln322Leu
NM_001909.5:c.965A>T MANE Select	NP_001900.1:p.Gln322Leu