Canonical Allele Identifier: CA379092689

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774866C>G (hg19) ; chr11:g.1753636C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753636C>G , CM000673.2:g.1753636C>G	GRCh38
NC_000011.9:g.1774866C>G , CM000673.1:g.1774866C>G	GRCh37
NC_000011.8:g.1731442C>G	NCBI36
NG_008655.1:g.15357G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1106G>C MANE Select	ENSP00000236671.2:p.Gly369Ala
ENST00000367196.4:c.1001G>C	ENSP00000356164.4:p.Gly334Ala
ENST00000427721.3:c.531G>C
ENST00000429746.2:c.1001G>C	ENSP00000402586.2:p.Gly334Ala
ENST00000433655.6:c.*272G>C	ENSP00000404902.1:n.*272G>C
ENST00000438213.6:c.1223G>C	ENSP00000415036.2:p.Gly408Ala
ENST00000636397.1:c.1071+167G>C	ENSP00000489910.1:n.1071+167G>C
ENST00000636571.1:c.1085G>C	ENSP00000490770.1:p.Gly362Ala
ENST00000636579.1:c.72+167G>C	ENSP00000490489.1:n.72+167G>C
ENST00000636615.1:c.1071+167G>C	ENSP00000490014.1:n.1071+167G>C
ENST00000636843.1:c.1100G>C	ENSP00000490897.1:p.Gly367Ala
ENST00000637158.1:n.704G>C
ENST00000637381.2:n.3534G>C
ENST00000637387.1:c.1085G>C	ENSP00000490598.1:p.Gly362Ala
ENST00000637815.2:c.1088G>C	ENSP00000490344.1:p.Gly363Ala
ENST00000637915.1:c.1097G>C	ENSP00000490471.1:p.Gly366Ala
ENST00000637937.1:n.414G>C
ENST00000678991.1:c.*967G>C	ENSP00000503019.1:n.*967G>C
ENST00000236671.6:c.1106G>C	ENSP00000236671.2:p.Gly369Ala
ENST00000427721.2:c.471+167G>C	ENSP00000415840.2:n.471+167G>C
ENST00000429746.1:c.437G>C	ENSP00000402586.1:p.Gly146Ala
ENST00000433655.5:c.*272G>C	ENSP00000404902.1:n.*272G>C
NM_001909.4:c.1106G>C	NP_001900.1:p.Gly369Ala
NM_001909.5:c.1106G>C MANE Select	NP_001900.1:p.Gly369Ala