Canonical Allele Identifier: CA379093718

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775262G>C (hg19) ; chr11:g.1754032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754032G>C , CM000673.2:g.1754032G>C	GRCh38
NC_000011.9:g.1775262G>C , CM000673.1:g.1775262G>C	GRCh37
NC_000011.8:g.1731838G>C	NCBI36
NG_008655.1:g.14961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.934C>G MANE Select	ENSP00000236671.2:p.Gln312Glu
ENST00000367196.4:c.829C>G	ENSP00000356164.4:p.Gln277Glu
ENST00000427721.3:c.359C>G
ENST00000429746.2:c.829C>G	ENSP00000402586.2:p.Gln277Glu
ENST00000433655.6:c.*100C>G	ENSP00000404902.1:n.*100C>G
ENST00000438213.6:c.1051C>G	ENSP00000415036.2:p.Gln351Glu
ENST00000497544.3:n.550C>G
ENST00000636397.1:c.934C>G	ENSP00000489910.1:p.Gln312Glu
ENST00000636571.1:c.913C>G	ENSP00000490770.1:p.Gln305Glu
ENST00000636615.1:c.934C>G	ENSP00000490014.1:p.Gln312Glu
ENST00000636843.1:c.928C>G	ENSP00000490897.1:p.Gln310Glu
ENST00000637158.1:n.532C>G
ENST00000637381.2:n.3362C>G
ENST00000637387.1:c.934C>G	ENSP00000490598.1:p.Gln312Glu
ENST00000637815.2:c.916C>G	ENSP00000490344.1:p.Gln306Glu
ENST00000637915.1:c.934C>G	ENSP00000490471.1:p.Gln312Glu
ENST00000637937.1:n.242C>G
ENST00000678991.1:c.*795C>G	ENSP00000503019.1:n.*795C>G
ENST00000236671.6:c.934C>G	ENSP00000236671.2:p.Gln312Glu
ENST00000427721.2:c.334C>G	ENSP00000415840.2:p.Gln112Glu
ENST00000429746.1:c.265C>G	ENSP00000402586.1:p.Gln89Glu
ENST00000433655.5:c.*100C>G	ENSP00000404902.1:n.*100C>G
ENST00000438213.5:c.889C>G	ENSP00000415036.1:p.Gln297Glu
ENST00000497544.1:n.550C>G
NM_001909.4:c.934C>G	NP_001900.1:p.Gln312Glu
NM_001909.5:c.934C>G MANE Select	NP_001900.1:p.Gln312Glu