Canonical Allele Identifier: CA379092322

Gene: CTSD

Linked Data

• dbSNP Id: rs1316535195
• gnomAD v2: 11-1774744-C-A
• MyVariant Identifiers: chr11:g.1774744C>A (hg19) ; chr11:g.1753514C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753514C>A , CM000673.2:g.1753514C>A	GRCh38
NC_000011.9:g.1774744C>A , CM000673.1:g.1774744C>A	GRCh37
NC_000011.8:g.1731320C>A	NCBI36
NG_008655.1:g.15479G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1228G>T MANE Select	ENSP00000236671.2:p.Ala410Ser
ENST00000367196.4:c.1123G>T	ENSP00000356164.4:p.Ala375Ser
ENST00000427721.3:c.634+19G>T
ENST00000429746.2:c.1123G>T	ENSP00000402586.2:p.Ala375Ser
ENST00000433655.6:c.*394G>T	ENSP00000404902.1:n.*394G>T
ENST00000438213.6:c.1345G>T	ENSP00000415036.2:p.Ala449Ser
ENST00000636397.1:c.1071+289G>T	ENSP00000489910.1:n.1071+289G>T
ENST00000636571.1:c.1207G>T	ENSP00000490770.1:p.Ala403Ser
ENST00000636579.1:c.72+289G>T	ENSP00000490489.1:n.72+289G>T
ENST00000636615.1:c.1071+289G>T	ENSP00000490014.1:n.1071+289G>T
ENST00000636843.1:c.1222G>T	ENSP00000490897.1:p.Ala408Ser
ENST00000637158.1:n.826G>T
ENST00000637381.2:n.3656G>T
ENST00000637387.1:c.1207G>T	ENSP00000490598.1:p.Ala403Ser
ENST00000637815.2:c.1210G>T	ENSP00000490344.1:p.Ala404Ser
ENST00000637915.1:c.1219G>T	ENSP00000490471.1:p.Ala407Ser
ENST00000637937.1:n.536G>T
ENST00000678991.1:c.*1089G>T	ENSP00000503019.1:n.*1089G>T
ENST00000236671.6:c.1228G>T	ENSP00000236671.2:p.Ala410Ser
ENST00000427721.2:c.471+289G>T	ENSP00000415840.2:n.471+289G>T
ENST00000429746.1:c.559G>T	ENSP00000402586.1:p.Ala187Ser
ENST00000433655.5:c.*394G>T	ENSP00000404902.1:n.*394G>T
NM_001909.4:c.1228G>T	NP_001900.1:p.Ala410Ser
NM_001909.5:c.1228G>T MANE Select	NP_001900.1:p.Ala410Ser