Canonical Allele Identifier: CA379093772

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775274C>T (hg19) ; chr11:g.1754044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754044C>T , CM000673.2:g.1754044C>T	GRCh38
NC_000011.9:g.1775274C>T , CM000673.1:g.1775274C>T	GRCh37
NC_000011.8:g.1731850C>T	NCBI36
NG_008655.1:g.14949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.922G>A MANE Select	ENSP00000236671.2:p.Val308Met
ENST00000367196.4:c.817G>A	ENSP00000356164.4:p.Val273Met
ENST00000427721.3:c.347G>A
ENST00000429746.2:c.817G>A	ENSP00000402586.2:p.Val273Met
ENST00000433655.6:c.*88G>A	ENSP00000404902.1:n.*88G>A
ENST00000438213.6:c.1039G>A	ENSP00000415036.2:p.Val347Met
ENST00000497544.3:n.538G>A
ENST00000636397.1:c.922G>A	ENSP00000489910.1:p.Val308Met
ENST00000636571.1:c.901G>A	ENSP00000490770.1:p.Val301Met
ENST00000636615.1:c.922G>A	ENSP00000490014.1:p.Val308Met
ENST00000636843.1:c.916G>A	ENSP00000490897.1:p.Val306Met
ENST00000637158.1:n.520G>A
ENST00000637381.2:n.3350G>A
ENST00000637387.1:c.922G>A	ENSP00000490598.1:p.Val308Met
ENST00000637815.2:c.904G>A	ENSP00000490344.1:p.Val302Met
ENST00000637915.1:c.922G>A	ENSP00000490471.1:p.Val308Met
ENST00000637937.1:n.230G>A
ENST00000678991.1:c.*783G>A	ENSP00000503019.1:n.*783G>A
ENST00000236671.6:c.922G>A	ENSP00000236671.2:p.Val308Met
ENST00000427721.2:c.322G>A	ENSP00000415840.2:p.Val108Met
ENST00000429746.1:c.253G>A	ENSP00000402586.1:p.Val85Met
ENST00000433655.5:c.*88G>A	ENSP00000404902.1:n.*88G>A
ENST00000438213.5:c.877G>A	ENSP00000415036.1:p.Val293Met
ENST00000497544.1:n.538G>A
NM_001909.4:c.922G>A	NP_001900.1:p.Val308Met
NM_001909.5:c.922G>A MANE Select	NP_001900.1:p.Val308Met