Canonical Allele Identifier: CA1947825288

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753860G= , CM000673.2:g.1753860G=	GRCh38
NC_000011.9:g.1775090G= , CM000673.1:g.1775090G=	GRCh37
NC_000011.8:g.1731666G=	NCBI36
NG_008655.1:g.15133C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1014C= MANE Select	ENSP00000236671.2:p.Ile338=
ENST00000367196.4:c.909C=	ENSP00000356164.4:p.Ile303=
ENST00000427721.3:c.439C=
ENST00000429746.2:c.909C=	ENSP00000402586.2:p.Ile303=
ENST00000433655.6:c.*180C=	ENSP00000404902.1:n.*180C=
ENST00000438213.6:c.1131C=	ENSP00000415036.2:p.Ile377=
ENST00000497544.3:n.722C=
ENST00000636397.1:c.1014C=	ENSP00000489910.1:p.Ile338=
ENST00000636571.1:c.993C=	ENSP00000490770.1:p.Ile331=
ENST00000636579.1:c.15C=	ENSP00000490489.1:p.Ile5=
ENST00000636615.1:c.1014C=	ENSP00000490014.1:p.Ile338=
ENST00000636843.1:c.1008C=	ENSP00000490897.1:p.Ile336=
ENST00000637158.1:n.612C=
ENST00000637381.2:n.3442C=
ENST00000637387.1:c.993C=	ENSP00000490598.1:p.Ile331=
ENST00000637815.2:c.996C=	ENSP00000490344.1:p.Ile332=
ENST00000637915.1:c.1014C=	ENSP00000490471.1:p.Ile338=
ENST00000637937.1:n.322C=
ENST00000678991.1:c.*875C=	ENSP00000503019.1:n.*875C=
ENST00000236671.6:c.1014C=	ENSP00000236671.2:p.Ile338=
ENST00000427721.2:c.414C=	ENSP00000415840.2:p.Ile138=
ENST00000429746.1:c.345C=	ENSP00000402586.1:p.Ile115=
ENST00000433655.5:c.*180C=	ENSP00000404902.1:n.*180C=
ENST00000497544.1:n.722C=
NM_001909.4:c.1014C=	NP_001900.1:p.Ile338=
NM_001909.5:c.1014C= MANE Select	NP_001900.1:p.Ile338=