Canonical Allele Identifier: CA379092797

Gene: CTSD

Linked Data

• dbSNP Id: rs1202598143
• gnomAD v2: 11-1774897-A-G
• gnomAD v4: 11-1753667-A-G
• MyVariant Identifiers: chr11:g.1774897A>G (hg19) ; chr11:g.1753667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753667A>G , CM000673.2:g.1753667A>G	GRCh38
NC_000011.9:g.1774897A>G , CM000673.1:g.1774897A>G	GRCh37
NC_000011.8:g.1731473A>G	NCBI36
NG_008655.1:g.15326T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1075T>C MANE Select	ENSP00000236671.2:p.Ser359Pro
ENST00000367196.4:c.970T>C	ENSP00000356164.4:p.Ser324Pro
ENST00000427721.3:c.500T>C
ENST00000429746.2:c.970T>C	ENSP00000402586.2:p.Ser324Pro
ENST00000433655.6:c.*241T>C	ENSP00000404902.1:n.*241T>C
ENST00000438213.6:c.1192T>C	ENSP00000415036.2:p.Ser398Pro
ENST00000497544.3:n.783T>C
ENST00000636397.1:c.1071+136T>C	ENSP00000489910.1:n.1071+136T>C
ENST00000636571.1:c.1054T>C	ENSP00000490770.1:p.Ser352Pro
ENST00000636579.1:c.72+136T>C	ENSP00000490489.1:n.72+136T>C
ENST00000636615.1:c.1071+136T>C	ENSP00000490014.1:n.1071+136T>C
ENST00000636843.1:c.1069T>C	ENSP00000490897.1:p.Ser357Pro
ENST00000637158.1:n.673T>C
ENST00000637381.2:n.3503T>C
ENST00000637387.1:c.1054T>C	ENSP00000490598.1:p.Ser352Pro
ENST00000637815.2:c.1057T>C	ENSP00000490344.1:p.Ser353Pro
ENST00000637915.1:c.1072-6T>C	ENSP00000490471.1:n.1072-6T>C
ENST00000637937.1:n.383T>C
ENST00000678991.1:c.*936T>C	ENSP00000503019.1:n.*936T>C
ENST00000236671.6:c.1075T>C	ENSP00000236671.2:p.Ser359Pro
ENST00000427721.2:c.471+136T>C	ENSP00000415840.2:n.471+136T>C
ENST00000429746.1:c.406T>C	ENSP00000402586.1:p.Ser136Pro
ENST00000433655.5:c.*241T>C	ENSP00000404902.1:n.*241T>C
NM_001909.4:c.1075T>C	NP_001900.1:p.Ser359Pro
NM_001909.5:c.1075T>C MANE Select	NP_001900.1:p.Ser359Pro