Canonical Allele Identifier: CA379092787

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774893T>G (hg19) ; chr11:g.1753663T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753663T>G , CM000673.2:g.1753663T>G	GRCh38
NC_000011.9:g.1774893T>G , CM000673.1:g.1774893T>G	GRCh37
NC_000011.8:g.1731469T>G	NCBI36
NG_008655.1:g.15330A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1079A>C MANE Select	ENSP00000236671.2:p.Gln360Pro
ENST00000367196.4:c.974A>C	ENSP00000356164.4:p.Gln325Pro
ENST00000427721.3:c.504A>C
ENST00000429746.2:c.974A>C	ENSP00000402586.2:p.Gln325Pro
ENST00000433655.6:c.*245A>C	ENSP00000404902.1:n.*245A>C
ENST00000438213.6:c.1196A>C	ENSP00000415036.2:p.Gln399Pro
ENST00000497544.3:n.787A>C
ENST00000636397.1:c.1071+140A>C	ENSP00000489910.1:n.1071+140A>C
ENST00000636571.1:c.1058A>C	ENSP00000490770.1:p.Gln353Pro
ENST00000636579.1:c.72+140A>C	ENSP00000490489.1:n.72+140A>C
ENST00000636615.1:c.1071+140A>C	ENSP00000490014.1:n.1071+140A>C
ENST00000636843.1:c.1073A>C	ENSP00000490897.1:p.Gln358Pro
ENST00000637158.1:n.677A>C
ENST00000637381.2:n.3507A>C
ENST00000637387.1:c.1058A>C	ENSP00000490598.1:p.Gln353Pro
ENST00000637815.2:c.1061A>C	ENSP00000490344.1:p.Gln354Pro
ENST00000637915.1:c.1072-2A>C	ENSP00000490471.1:n.1072-2A>C
ENST00000637937.1:n.387A>C
ENST00000678991.1:c.*940A>C	ENSP00000503019.1:n.*940A>C
ENST00000236671.6:c.1079A>C	ENSP00000236671.2:p.Gln360Pro
ENST00000427721.2:c.471+140A>C	ENSP00000415840.2:n.471+140A>C
ENST00000429746.1:c.410A>C	ENSP00000402586.1:p.Gln137Pro
ENST00000433655.5:c.*245A>C	ENSP00000404902.1:n.*245A>C
NM_001909.4:c.1079A>C	NP_001900.1:p.Gln360Pro
NM_001909.5:c.1079A>C MANE Select	NP_001900.1:p.Gln360Pro