Canonical Allele Identifier: CA379093608

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775246G>C (hg19) ; chr11:g.1754016G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.950C>G MANE Select	ENSP00000236671.2:p.Ala317Gly
ENST00000367196.4:c.845C>G	ENSP00000356164.4:p.Ala282Gly
ENST00000427721.3:c.375C>G
ENST00000429746.2:c.845C>G	ENSP00000402586.2:p.Ala282Gly
ENST00000433655.6:c.*116C>G	ENSP00000404902.1:n.*116C>G
ENST00000438213.6:c.1067C>G	ENSP00000415036.2:p.Ala356Gly
ENST00000497544.3:n.566C>G
ENST00000636397.1:c.950C>G	ENSP00000489910.1:p.Ala317Gly
ENST00000636571.1:c.929C>G	ENSP00000490770.1:p.Ala310Gly
ENST00000636615.1:c.950C>G	ENSP00000490014.1:p.Ala317Gly
ENST00000636843.1:c.944C>G	ENSP00000490897.1:p.Ala315Gly
ENST00000637158.1:n.548C>G
ENST00000637381.2:n.3378C>G
ENST00000637387.1:c.950C>G	ENSP00000490598.1:p.Ala317Gly
ENST00000637815.2:c.932C>G	ENSP00000490344.1:p.Ala311Gly
ENST00000637915.1:c.950C>G	ENSP00000490471.1:p.Ala317Gly
ENST00000637937.1:n.258C>G
ENST00000678991.1:c.*811C>G	ENSP00000503019.1:n.*811C>G
ENST00000236671.6:c.950C>G	ENSP00000236671.2:p.Ala317Gly
ENST00000427721.2:c.350C>G	ENSP00000415840.2:p.Ala117Gly
ENST00000429746.1:c.281C>G	ENSP00000402586.1:p.Ala94Gly
ENST00000433655.5:c.*116C>G	ENSP00000404902.1:n.*116C>G
ENST00000497544.1:n.566C>G
NM_001909.4:c.950C>G	NP_001900.1:p.Ala317Gly
NM_001909.5:c.950C>G MANE Select	NP_001900.1:p.Ala317Gly