Canonical Allele Identifier: CA472139407

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774745A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753515A>C , CM000673.2:g.1753515A>C	GRCh38
NC_000011.9:g.1774745A>C , CM000673.1:g.1774745A>C	GRCh37
NC_000011.8:g.1731321A>C	NCBI36
NG_008655.1:g.15478T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1227T>G MANE Select	ENSP00000236671.2:p.Ala409=
ENST00000367196.4:c.1122T>G	ENSP00000356164.4:p.Ala374=
ENST00000427721.3:c.634+18T>G
ENST00000429746.2:c.1122T>G	ENSP00000402586.2:p.Ala374=
ENST00000433655.6:c.*393T>G	ENSP00000404902.1:n.*393T>G
ENST00000438213.6:c.1344T>G	ENSP00000415036.2:p.Ala448=
ENST00000636397.1:c.1071+288T>G	ENSP00000489910.1:n.1071+288T>G
ENST00000636571.1:c.1206T>G	ENSP00000490770.1:p.Ala402=
ENST00000636579.1:c.72+288T>G	ENSP00000490489.1:n.72+288T>G
ENST00000636615.1:c.1071+288T>G	ENSP00000490014.1:n.1071+288T>G
ENST00000636843.1:c.1221T>G	ENSP00000490897.1:p.Ala407=
ENST00000637158.1:n.825T>G
ENST00000637381.2:n.3655T>G
ENST00000637387.1:c.1206T>G	ENSP00000490598.1:p.Ala402=
ENST00000637815.2:c.1209T>G	ENSP00000490344.1:p.Ala403=
ENST00000637915.1:c.1218T>G	ENSP00000490471.1:p.Ala406=
ENST00000637937.1:n.535T>G
ENST00000678991.1:c.*1088T>G	ENSP00000503019.1:n.*1088T>G
ENST00000236671.6:c.1227T>G	ENSP00000236671.2:p.Ala409=
ENST00000427721.2:c.471+288T>G	ENSP00000415840.2:n.471+288T>G
ENST00000429746.1:c.558T>G	ENSP00000402586.1:p.Ala186=
ENST00000433655.5:c.*393T>G	ENSP00000404902.1:n.*393T>G
NM_001909.4:c.1227T>G	NP_001900.1:p.Ala409=
NM_001909.5:c.1227T>G MANE Select	NP_001900.1:p.Ala409=