Canonical Allele Identifier: CA379093607

Gene: CTSD

Linked Data

• dbSNP Id: rs2133657819
• MyVariant Identifiers: chr11:g.1775246G>A (hg19) ; chr11:g.1754016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754016G>A , CM000673.2:g.1754016G>A	GRCh38
NC_000011.9:g.1775246G>A , CM000673.1:g.1775246G>A	GRCh37
NC_000011.8:g.1731822G>A	NCBI36
NG_008655.1:g.14977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.950C>T MANE Select	ENSP00000236671.2:p.Ala317Val
ENST00000367196.4:c.845C>T	ENSP00000356164.4:p.Ala282Val
ENST00000427721.3:c.375C>T
ENST00000429746.2:c.845C>T	ENSP00000402586.2:p.Ala282Val
ENST00000433655.6:c.*116C>T	ENSP00000404902.1:n.*116C>T
ENST00000438213.6:c.1067C>T	ENSP00000415036.2:p.Ala356Val
ENST00000497544.3:n.566C>T
ENST00000636397.1:c.950C>T	ENSP00000489910.1:p.Ala317Val
ENST00000636571.1:c.929C>T	ENSP00000490770.1:p.Ala310Val
ENST00000636615.1:c.950C>T	ENSP00000490014.1:p.Ala317Val
ENST00000636843.1:c.944C>T	ENSP00000490897.1:p.Ala315Val
ENST00000637158.1:n.548C>T
ENST00000637381.2:n.3378C>T
ENST00000637387.1:c.950C>T	ENSP00000490598.1:p.Ala317Val
ENST00000637815.2:c.932C>T	ENSP00000490344.1:p.Ala311Val
ENST00000637915.1:c.950C>T	ENSP00000490471.1:p.Ala317Val
ENST00000637937.1:n.258C>T
ENST00000678991.1:c.*811C>T	ENSP00000503019.1:n.*811C>T
ENST00000236671.6:c.950C>T	ENSP00000236671.2:p.Ala317Val
ENST00000427721.2:c.350C>T	ENSP00000415840.2:p.Ala117Val
ENST00000429746.1:c.281C>T	ENSP00000402586.1:p.Ala94Val
ENST00000433655.5:c.*116C>T	ENSP00000404902.1:n.*116C>T
ENST00000497544.1:n.566C>T
NM_001909.4:c.950C>T	NP_001900.1:p.Ala317Val
NM_001909.5:c.950C>T MANE Select	NP_001900.1:p.Ala317Val