Canonical Allele Identifier: CA379092319

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774743G>A (hg19) ; chr11:g.1753513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753513G>A , CM000673.2:g.1753513G>A	GRCh38
NC_000011.9:g.1774743G>A , CM000673.1:g.1774743G>A	GRCh37
NC_000011.8:g.1731319G>A	NCBI36
NG_008655.1:g.15480C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1229C>T MANE Select	ENSP00000236671.2:p.Ala410Val
ENST00000367196.4:c.1124C>T	ENSP00000356164.4:p.Ala375Val
ENST00000427721.3:c.634+20C>T
ENST00000429746.2:c.1124C>T	ENSP00000402586.2:p.Ala375Val
ENST00000433655.6:c.*395C>T	ENSP00000404902.1:n.*395C>T
ENST00000438213.6:c.1346C>T	ENSP00000415036.2:p.Ala449Val
ENST00000636397.1:c.1071+290C>T	ENSP00000489910.1:n.1071+290C>T
ENST00000636571.1:c.1208C>T	ENSP00000490770.1:p.Ala403Val
ENST00000636579.1:c.72+290C>T	ENSP00000490489.1:n.72+290C>T
ENST00000636615.1:c.1071+290C>T	ENSP00000490014.1:n.1071+290C>T
ENST00000636843.1:c.1223C>T	ENSP00000490897.1:p.Ala408Val
ENST00000637158.1:n.827C>T
ENST00000637381.2:n.3657C>T
ENST00000637387.1:c.1208C>T	ENSP00000490598.1:p.Ala403Val
ENST00000637815.2:c.1211C>T	ENSP00000490344.1:p.Ala404Val
ENST00000637915.1:c.1220C>T	ENSP00000490471.1:p.Ala407Val
ENST00000637937.1:n.537C>T
ENST00000678991.1:c.*1090C>T	ENSP00000503019.1:n.*1090C>T
ENST00000236671.6:c.1229C>T	ENSP00000236671.2:p.Ala410Val
ENST00000427721.2:c.471+290C>T	ENSP00000415840.2:n.471+290C>T
ENST00000429746.1:c.560C>T	ENSP00000402586.1:p.Ala187Val
ENST00000433655.5:c.*395C>T	ENSP00000404902.1:n.*395C>T
NM_001909.4:c.1229C>T	NP_001900.1:p.Ala410Val
NM_001909.5:c.1229C>T MANE Select	NP_001900.1:p.Ala410Val