Canonical Allele Identifier: CA379093255

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775092T>A (hg19) ; chr11:g.1753862T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753862T>A , CM000673.2:g.1753862T>A	GRCh38
NC_000011.9:g.1775092T>A , CM000673.1:g.1775092T>A	GRCh37
NC_000011.8:g.1731668T>A	NCBI36
NG_008655.1:g.15131A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1012A>T MANE Select	ENSP00000236671.2:p.Ile338Phe
ENST00000367196.4:c.907A>T	ENSP00000356164.4:p.Ile303Phe
ENST00000427721.3:c.437A>T
ENST00000429746.2:c.907A>T	ENSP00000402586.2:p.Ile303Phe
ENST00000433655.6:c.*178A>T	ENSP00000404902.1:n.*178A>T
ENST00000438213.6:c.1129A>T	ENSP00000415036.2:p.Ile377Phe
ENST00000497544.3:n.720A>T
ENST00000636397.1:c.1012A>T	ENSP00000489910.1:p.Ile338Phe
ENST00000636571.1:c.991A>T	ENSP00000490770.1:p.Ile331Phe
ENST00000636579.1:c.13A>T	ENSP00000490489.1:p.Ile5Phe
ENST00000636615.1:c.1012A>T	ENSP00000490014.1:p.Ile338Phe
ENST00000636843.1:c.1006A>T	ENSP00000490897.1:p.Ile336Phe
ENST00000637158.1:n.610A>T
ENST00000637381.2:n.3440A>T
ENST00000637387.1:c.991A>T	ENSP00000490598.1:p.Ile331Phe
ENST00000637815.2:c.994A>T	ENSP00000490344.1:p.Ile332Phe
ENST00000637915.1:c.1012A>T	ENSP00000490471.1:p.Ile338Phe
ENST00000637937.1:n.320A>T
ENST00000678991.1:c.*873A>T	ENSP00000503019.1:n.*873A>T
ENST00000236671.6:c.1012A>T	ENSP00000236671.2:p.Ile338Phe
ENST00000427721.2:c.412A>T	ENSP00000415840.2:p.Ile138Phe
ENST00000429746.1:c.343A>T	ENSP00000402586.1:p.Ile115Phe
ENST00000433655.5:c.*178A>T	ENSP00000404902.1:n.*178A>T
ENST00000497544.1:n.720A>T
NM_001909.4:c.1012A>T	NP_001900.1:p.Ile338Phe
NM_001909.5:c.1012A>T MANE Select	NP_001900.1:p.Ile338Phe