Canonical Allele Identifier: CA472139697

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774775A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753545A>C , CM000673.2:g.1753545A>C	GRCh38
NC_000011.9:g.1774775A>C , CM000673.1:g.1774775A>C	GRCh37
NC_000011.8:g.1731351A>C	NCBI36
NG_008655.1:g.15448T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1197T>G MANE Select	ENSP00000236671.2:p.Arg399=
ENST00000367196.4:c.1092T>G	ENSP00000356164.4:p.Arg364=
ENST00000427721.3:c.622T>G
ENST00000429746.2:c.1092T>G	ENSP00000402586.2:p.Arg364=
ENST00000433655.6:c.*363T>G	ENSP00000404902.1:n.*363T>G
ENST00000438213.6:c.1314T>G	ENSP00000415036.2:p.Arg438=
ENST00000636397.1:c.1071+258T>G	ENSP00000489910.1:n.1071+258T>G
ENST00000636571.1:c.1176T>G	ENSP00000490770.1:p.Arg392=
ENST00000636579.1:c.72+258T>G	ENSP00000490489.1:n.72+258T>G
ENST00000636615.1:c.1071+258T>G	ENSP00000490014.1:n.1071+258T>G
ENST00000636843.1:c.1191T>G	ENSP00000490897.1:p.Arg397=
ENST00000637158.1:n.795T>G
ENST00000637381.2:n.3625T>G
ENST00000637387.1:c.1176T>G	ENSP00000490598.1:p.Arg392=
ENST00000637815.2:c.1179T>G	ENSP00000490344.1:p.Arg393=
ENST00000637915.1:c.1188T>G	ENSP00000490471.1:p.Arg396=
ENST00000637937.1:n.505T>G
ENST00000678991.1:c.*1058T>G	ENSP00000503019.1:n.*1058T>G
ENST00000236671.6:c.1197T>G	ENSP00000236671.2:p.Arg399=
ENST00000427721.2:c.471+258T>G	ENSP00000415840.2:n.471+258T>G
ENST00000429746.1:c.528T>G	ENSP00000402586.1:p.Arg176=
ENST00000433655.5:c.*363T>G	ENSP00000404902.1:n.*363T>G
NM_001909.4:c.1197T>G	NP_001900.1:p.Arg399=
NM_001909.5:c.1197T>G MANE Select	NP_001900.1:p.Arg399=