Canonical Allele Identifier: CA379098435

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1780824A>C (hg19) ; chr11:g.1759594A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759594A>C , CM000673.2:g.1759594A>C	GRCh38
NC_000011.9:g.1780824A>C , CM000673.1:g.1780824A>C	GRCh37
NC_000011.8:g.1737400A>C	NCBI36
NG_008655.1:g.9399T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.274T>G MANE Select	ENSP00000236671.2:p.Phe92Val
ENST00000367196.4:c.169T>G	ENSP00000356164.4:p.Phe57Val
ENST00000429746.2:c.169T>G	ENSP00000402586.2:p.Phe57Val
ENST00000433655.6:c.274T>G	ENSP00000404902.1:p.Phe92Val
ENST00000438213.6:c.274T>G	ENSP00000415036.2:p.Phe92Val
ENST00000636397.1:c.274T>G	ENSP00000489910.1:p.Phe92Val
ENST00000636571.1:c.253T>G	ENSP00000490770.1:p.Phe85Val
ENST00000636615.1:c.274T>G	ENSP00000490014.1:p.Phe92Val
ENST00000636843.1:c.268T>G	ENSP00000490897.1:p.Phe90Val
ENST00000637381.2:n.2702T>G
ENST00000637387.1:c.274T>G	ENSP00000490598.1:p.Phe92Val
ENST00000637815.2:c.274T>G	ENSP00000490344.1:p.Phe92Val
ENST00000637915.1:c.274T>G	ENSP00000490471.1:p.Phe92Val
ENST00000677300.1:n.669T>G
ENST00000678991.1:c.*135T>G	ENSP00000503019.1:n.*135T>G
ENST00000236671.6:c.274T>G	ENSP00000236671.2:p.Phe92Val
ENST00000367196.3:c.169T>G	ENSP00000356164.3:p.Phe57Val
ENST00000433655.5:c.274T>G	ENSP00000404902.1:p.Phe92Val
ENST00000438213.5:c.229T>G	ENSP00000415036.1:p.Phe77Val
NM_001909.4:c.274T>G	NP_001900.1:p.Phe92Val
NM_001909.5:c.274T>G MANE Select	NP_001900.1:p.Phe92Val