Canonical Allele Identifier: CA472140651

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775224C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753994C>T , CM000673.2:g.1753994C>T	GRCh38
NC_000011.9:g.1775224C>T , CM000673.1:g.1775224C>T	GRCh37
NC_000011.8:g.1731800C>T	NCBI36
NG_008655.1:g.14999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972G>A MANE Select	ENSP00000236671.2:p.Glu324=
ENST00000367196.4:c.867G>A	ENSP00000356164.4:p.Glu289=
ENST00000427721.3:c.397G>A
ENST00000429746.2:c.867G>A	ENSP00000402586.2:p.Glu289=
ENST00000433655.6:c.*138G>A	ENSP00000404902.1:n.*138G>A
ENST00000438213.6:c.1089G>A	ENSP00000415036.2:p.Glu363=
ENST00000497544.3:n.588G>A
ENST00000636397.1:c.972G>A	ENSP00000489910.1:p.Glu324=
ENST00000636571.1:c.951G>A	ENSP00000490770.1:p.Glu317=
ENST00000636615.1:c.972G>A	ENSP00000490014.1:p.Glu324=
ENST00000636843.1:c.966G>A	ENSP00000490897.1:p.Glu322=
ENST00000637158.1:n.570G>A
ENST00000637381.2:n.3400G>A
ENST00000637387.1:c.972G>A	ENSP00000490598.1:p.Glu324=
ENST00000637815.2:c.954G>A	ENSP00000490344.1:p.Glu318=
ENST00000637915.1:c.972G>A	ENSP00000490471.1:p.Glu324=
ENST00000637937.1:n.280G>A
ENST00000678991.1:c.*833G>A	ENSP00000503019.1:n.*833G>A
ENST00000236671.6:c.972G>A	ENSP00000236671.2:p.Glu324=
ENST00000427721.2:c.372G>A	ENSP00000415840.2:p.Glu124=
ENST00000429746.1:c.303G>A	ENSP00000402586.1:p.Glu101=
ENST00000433655.5:c.*138G>A	ENSP00000404902.1:n.*138G>A
ENST00000497544.1:n.588G>A
NM_001909.4:c.972G>A	NP_001900.1:p.Glu324=
NM_001909.5:c.972G>A MANE Select	NP_001900.1:p.Glu324=