Canonical Allele Identifier: CA379092326

Gene: CTSD

Linked Data

• dbSNP Id: rs1845753620
• MyVariant Identifiers: chr11:g.1774746G>A (hg19) ; chr11:g.1753516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753516G>A , CM000673.2:g.1753516G>A	GRCh38
NC_000011.9:g.1774746G>A , CM000673.1:g.1774746G>A	GRCh37
NC_000011.8:g.1731322G>A	NCBI36
NG_008655.1:g.15477C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1226C>T MANE Select	ENSP00000236671.2:p.Ala409Val
ENST00000367196.4:c.1121C>T	ENSP00000356164.4:p.Ala374Val
ENST00000427721.3:c.634+17C>T
ENST00000429746.2:c.1121C>T	ENSP00000402586.2:p.Ala374Val
ENST00000433655.6:c.*392C>T	ENSP00000404902.1:n.*392C>T
ENST00000438213.6:c.1343C>T	ENSP00000415036.2:p.Ala448Val
ENST00000636397.1:c.1071+287C>T	ENSP00000489910.1:n.1071+287C>T
ENST00000636571.1:c.1205C>T	ENSP00000490770.1:p.Ala402Val
ENST00000636579.1:c.72+287C>T	ENSP00000490489.1:n.72+287C>T
ENST00000636615.1:c.1071+287C>T	ENSP00000490014.1:n.1071+287C>T
ENST00000636843.1:c.1220C>T	ENSP00000490897.1:p.Ala407Val
ENST00000637158.1:n.824C>T
ENST00000637381.2:n.3654C>T
ENST00000637387.1:c.1205C>T	ENSP00000490598.1:p.Ala402Val
ENST00000637815.2:c.1208C>T	ENSP00000490344.1:p.Ala403Val
ENST00000637915.1:c.1217C>T	ENSP00000490471.1:p.Ala406Val
ENST00000637937.1:n.534C>T
ENST00000678991.1:c.*1087C>T	ENSP00000503019.1:n.*1087C>T
ENST00000236671.6:c.1226C>T	ENSP00000236671.2:p.Ala409Val
ENST00000427721.2:c.471+287C>T	ENSP00000415840.2:n.471+287C>T
ENST00000429746.1:c.557C>T	ENSP00000402586.1:p.Ala186Val
ENST00000433655.5:c.*392C>T	ENSP00000404902.1:n.*392C>T
NM_001909.4:c.1226C>T	NP_001900.1:p.Ala409Val
NM_001909.5:c.1226C>T MANE Select	NP_001900.1:p.Ala409Val