Canonical Allele Identifier: CA379093754

Gene: CTSD

Linked Data

• dbSNP Id: rs373699222
• gnomAD v2: 11-1775268-C-A
• gnomAD v4: 11-1754038-C-A
• MyVariant Identifiers: chr11:g.1775268C>A (hg19) ; chr11:g.1754038C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754038C>A , CM000673.2:g.1754038C>A	GRCh38
NC_000011.9:g.1775268C>A , CM000673.1:g.1775268C>A	GRCh37
NC_000011.8:g.1731844C>A	NCBI36
NG_008655.1:g.14955G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.928G>T MANE Select	ENSP00000236671.2:p.Glu310Ter
ENST00000367196.4:c.823G>T	ENSP00000356164.4:p.Glu275Ter
ENST00000427721.3:c.353G>T
ENST00000429746.2:c.823G>T	ENSP00000402586.2:p.Glu275Ter
ENST00000433655.6:c.*94G>T	ENSP00000404902.1:n.*94G>T
ENST00000438213.6:c.1045G>T	ENSP00000415036.2:p.Glu349Ter
ENST00000497544.3:n.544G>T
ENST00000636397.1:c.928G>T	ENSP00000489910.1:p.Glu310Ter
ENST00000636571.1:c.907G>T	ENSP00000490770.1:p.Glu303Ter
ENST00000636615.1:c.928G>T	ENSP00000490014.1:p.Glu310Ter
ENST00000636843.1:c.922G>T	ENSP00000490897.1:p.Glu308Ter
ENST00000637158.1:n.526G>T
ENST00000637381.2:n.3356G>T
ENST00000637387.1:c.928G>T	ENSP00000490598.1:p.Glu310Ter
ENST00000637815.2:c.910G>T	ENSP00000490344.1:p.Glu304Ter
ENST00000637915.1:c.928G>T	ENSP00000490471.1:p.Glu310Ter
ENST00000637937.1:n.236G>T
ENST00000678991.1:c.*789G>T	ENSP00000503019.1:n.*789G>T
ENST00000236671.6:c.928G>T	ENSP00000236671.2:p.Glu310Ter
ENST00000427721.2:c.328G>T	ENSP00000415840.2:p.Glu110Ter
ENST00000429746.1:c.259G>T	ENSP00000402586.1:p.Glu87Ter
ENST00000433655.5:c.*94G>T	ENSP00000404902.1:n.*94G>T
ENST00000438213.5:c.883G>T	ENSP00000415036.1:p.Glu295Ter
ENST00000497544.1:n.544G>T
NM_001909.4:c.928G>T	NP_001900.1:p.Glu310Ter
NM_001909.5:c.928G>T MANE Select	NP_001900.1:p.Glu310Ter