Canonical Allele Identifier: CA379092572

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753605-G-T
• MyVariant Identifiers: chr11:g.1774835G>T (hg19) ; chr11:g.1753605G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753605G>T , CM000673.2:g.1753605G>T	GRCh38
NC_000011.9:g.1774835G>T , CM000673.1:g.1774835G>T	GRCh37
NC_000011.8:g.1731411G>T	NCBI36
NG_008655.1:g.15388C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1137C>A MANE Select	ENSP00000236671.2:p.Ser379Arg
ENST00000367196.4:c.1032C>A	ENSP00000356164.4:p.Ser344Arg
ENST00000427721.3:c.562C>A
ENST00000429746.2:c.1032C>A	ENSP00000402586.2:p.Ser344Arg
ENST00000433655.6:c.*303C>A	ENSP00000404902.1:n.*303C>A
ENST00000438213.6:c.1254C>A	ENSP00000415036.2:p.Ser418Arg
ENST00000636397.1:c.1071+198C>A	ENSP00000489910.1:n.1071+198C>A
ENST00000636571.1:c.1116C>A	ENSP00000490770.1:p.Ser372Arg
ENST00000636579.1:c.72+198C>A	ENSP00000490489.1:n.72+198C>A
ENST00000636615.1:c.1071+198C>A	ENSP00000490014.1:n.1071+198C>A
ENST00000636843.1:c.1131C>A	ENSP00000490897.1:p.Ser377Arg
ENST00000637158.1:n.735C>A
ENST00000637381.2:n.3565C>A
ENST00000637387.1:c.1116C>A	ENSP00000490598.1:p.Ser372Arg
ENST00000637815.2:c.1119C>A	ENSP00000490344.1:p.Ser373Arg
ENST00000637915.1:c.1128C>A	ENSP00000490471.1:p.Ser376Arg
ENST00000637937.1:n.445C>A
ENST00000678991.1:c.*998C>A	ENSP00000503019.1:n.*998C>A
ENST00000236671.6:c.1137C>A	ENSP00000236671.2:p.Ser379Arg
ENST00000427721.2:c.471+198C>A	ENSP00000415840.2:n.471+198C>A
ENST00000429746.1:c.468C>A	ENSP00000402586.1:p.Ser156Arg
ENST00000433655.5:c.*303C>A	ENSP00000404902.1:n.*303C>A
NM_001909.4:c.1137C>A	NP_001900.1:p.Ser379Arg
NM_001909.5:c.1137C>A MANE Select	NP_001900.1:p.Ser379Arg