Canonical Allele Identifier: CA379093420

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775130T>A (hg19) ; chr11:g.1753900T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753900T>A , CM000673.2:g.1753900T>A	GRCh38
NC_000011.9:g.1775130T>A , CM000673.1:g.1775130T>A	GRCh37
NC_000011.8:g.1731706T>A	NCBI36
NG_008655.1:g.15093A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.974A>T MANE Select	ENSP00000236671.2:p.Tyr325Phe
ENST00000367196.4:c.869A>T	ENSP00000356164.4:p.Tyr290Phe
ENST00000427721.3:c.399A>T
ENST00000429746.2:c.869A>T	ENSP00000402586.2:p.Tyr290Phe
ENST00000433655.6:c.*140A>T	ENSP00000404902.1:n.*140A>T
ENST00000438213.6:c.1091A>T	ENSP00000415036.2:p.Tyr364Phe
ENST00000497544.3:n.682A>T
ENST00000636397.1:c.974A>T	ENSP00000489910.1:p.Tyr325Phe
ENST00000636571.1:c.953A>T	ENSP00000490770.1:p.Tyr318Phe
ENST00000636615.1:c.974A>T	ENSP00000490014.1:p.Tyr325Phe
ENST00000636843.1:c.968A>T	ENSP00000490897.1:p.Tyr323Phe
ENST00000637158.1:n.572A>T
ENST00000637381.2:n.3402A>T
ENST00000637387.1:c.973-20A>T	ENSP00000490598.1:n.973-20A>T
ENST00000637815.2:c.956A>T	ENSP00000490344.1:p.Tyr319Phe
ENST00000637915.1:c.974A>T	ENSP00000490471.1:p.Tyr325Phe
ENST00000637937.1:n.282A>T
ENST00000678991.1:c.*835A>T	ENSP00000503019.1:n.*835A>T
ENST00000236671.6:c.974A>T	ENSP00000236671.2:p.Tyr325Phe
ENST00000427721.2:c.374A>T	ENSP00000415840.2:p.Tyr125Phe
ENST00000429746.1:c.305A>T	ENSP00000402586.1:p.Tyr102Phe
ENST00000433655.5:c.*140A>T	ENSP00000404902.1:n.*140A>T
ENST00000497544.1:n.682A>T
NM_001909.4:c.974A>T	NP_001900.1:p.Tyr325Phe
NM_001909.5:c.974A>T MANE Select	NP_001900.1:p.Tyr325Phe