Canonical Allele Identifier: CA379092328

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774747C>G (hg19) ; chr11:g.1753517C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753517C>G , CM000673.2:g.1753517C>G	GRCh38
NC_000011.9:g.1774747C>G , CM000673.1:g.1774747C>G	GRCh37
NC_000011.8:g.1731323C>G	NCBI36
NG_008655.1:g.15476G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1225G>C MANE Select	ENSP00000236671.2:p.Ala409Pro
ENST00000367196.4:c.1120G>C	ENSP00000356164.4:p.Ala374Pro
ENST00000427721.3:c.634+16G>C
ENST00000429746.2:c.1120G>C	ENSP00000402586.2:p.Ala374Pro
ENST00000433655.6:c.*391G>C	ENSP00000404902.1:n.*391G>C
ENST00000438213.6:c.1342G>C	ENSP00000415036.2:p.Ala448Pro
ENST00000636397.1:c.1071+286G>C	ENSP00000489910.1:n.1071+286G>C
ENST00000636571.1:c.1204G>C	ENSP00000490770.1:p.Ala402Pro
ENST00000636579.1:c.72+286G>C	ENSP00000490489.1:n.72+286G>C
ENST00000636615.1:c.1071+286G>C	ENSP00000490014.1:n.1071+286G>C
ENST00000636843.1:c.1219G>C	ENSP00000490897.1:p.Ala407Pro
ENST00000637158.1:n.823G>C
ENST00000637381.2:n.3653G>C
ENST00000637387.1:c.1204G>C	ENSP00000490598.1:p.Ala402Pro
ENST00000637815.2:c.1207G>C	ENSP00000490344.1:p.Ala403Pro
ENST00000637915.1:c.1216G>C	ENSP00000490471.1:p.Ala406Pro
ENST00000637937.1:n.533G>C
ENST00000678991.1:c.*1086G>C	ENSP00000503019.1:n.*1086G>C
ENST00000236671.6:c.1225G>C	ENSP00000236671.2:p.Ala409Pro
ENST00000427721.2:c.471+286G>C	ENSP00000415840.2:n.471+286G>C
ENST00000429746.1:c.556G>C	ENSP00000402586.1:p.Ala186Pro
ENST00000433655.5:c.*391G>C	ENSP00000404902.1:n.*391G>C
NM_001909.4:c.1225G>C	NP_001900.1:p.Ala409Pro
NM_001909.5:c.1225G>C MANE Select	NP_001900.1:p.Ala409Pro