Canonical Allele Identifier: CA379093716

Gene: CTSD

Linked Data

• dbSNP Id: rs1378061411
• gnomAD v4: 11-1754032-G-A
• MyVariant Identifiers: chr11:g.1775262G>A (hg19) ; chr11:g.1754032G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.934C>T MANE Select	ENSP00000236671.2:p.Gln312Ter
ENST00000367196.4:c.829C>T	ENSP00000356164.4:p.Gln277Ter
ENST00000427721.3:c.359C>T
ENST00000429746.2:c.829C>T	ENSP00000402586.2:p.Gln277Ter
ENST00000433655.6:c.*100C>T	ENSP00000404902.1:n.*100C>T
ENST00000438213.6:c.1051C>T	ENSP00000415036.2:p.Gln351Ter
ENST00000497544.3:n.550C>T
ENST00000636397.1:c.934C>T	ENSP00000489910.1:p.Gln312Ter
ENST00000636571.1:c.913C>T	ENSP00000490770.1:p.Gln305Ter
ENST00000636615.1:c.934C>T	ENSP00000490014.1:p.Gln312Ter
ENST00000636843.1:c.928C>T	ENSP00000490897.1:p.Gln310Ter
ENST00000637158.1:n.532C>T
ENST00000637381.2:n.3362C>T
ENST00000637387.1:c.934C>T	ENSP00000490598.1:p.Gln312Ter
ENST00000637815.2:c.916C>T	ENSP00000490344.1:p.Gln306Ter
ENST00000637915.1:c.934C>T	ENSP00000490471.1:p.Gln312Ter
ENST00000637937.1:n.242C>T
ENST00000678991.1:c.*795C>T	ENSP00000503019.1:n.*795C>T
ENST00000236671.6:c.934C>T	ENSP00000236671.2:p.Gln312Ter
ENST00000427721.2:c.334C>T	ENSP00000415840.2:p.Gln112Ter
ENST00000429746.1:c.265C>T	ENSP00000402586.1:p.Gln89Ter
ENST00000433655.5:c.*100C>T	ENSP00000404902.1:n.*100C>T
ENST00000438213.5:c.889C>T	ENSP00000415036.1:p.Gln297Ter
ENST00000497544.1:n.550C>T
NM_001909.4:c.934C>T	NP_001900.1:p.Gln312Ter
NM_001909.5:c.934C>T MANE Select	NP_001900.1:p.Gln312Ter