Canonical Allele Identifier: CA379093622

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754019-C-T
• MyVariant Identifiers: chr11:g.1775249C>T (hg19) ; chr11:g.1754019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754019C>T , CM000673.2:g.1754019C>T	GRCh38
NC_000011.9:g.1775249C>T , CM000673.1:g.1775249C>T	GRCh37
NC_000011.8:g.1731825C>T	NCBI36
NG_008655.1:g.14974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.947G>A MANE Select	ENSP00000236671.2:p.Gly316Glu
ENST00000367196.4:c.842G>A	ENSP00000356164.4:p.Gly281Glu
ENST00000427721.3:c.372G>A
ENST00000429746.2:c.842G>A	ENSP00000402586.2:p.Gly281Glu
ENST00000433655.6:c.*113G>A	ENSP00000404902.1:n.*113G>A
ENST00000438213.6:c.1064G>A	ENSP00000415036.2:p.Gly355Glu
ENST00000497544.3:n.563G>A
ENST00000636397.1:c.947G>A	ENSP00000489910.1:p.Gly316Glu
ENST00000636571.1:c.926G>A	ENSP00000490770.1:p.Gly309Glu
ENST00000636615.1:c.947G>A	ENSP00000490014.1:p.Gly316Glu
ENST00000636843.1:c.941G>A	ENSP00000490897.1:p.Gly314Glu
ENST00000637158.1:n.545G>A
ENST00000637381.2:n.3375G>A
ENST00000637387.1:c.947G>A	ENSP00000490598.1:p.Gly316Glu
ENST00000637815.2:c.929G>A	ENSP00000490344.1:p.Gly310Glu
ENST00000637915.1:c.947G>A	ENSP00000490471.1:p.Gly316Glu
ENST00000637937.1:n.255G>A
ENST00000678991.1:c.*808G>A	ENSP00000503019.1:n.*808G>A
ENST00000236671.6:c.947G>A	ENSP00000236671.2:p.Gly316Glu
ENST00000427721.2:c.347G>A	ENSP00000415840.2:p.Gly116Glu
ENST00000429746.1:c.278G>A	ENSP00000402586.1:p.Gly93Glu
ENST00000433655.5:c.*113G>A	ENSP00000404902.1:n.*113G>A
ENST00000497544.1:n.563G>A
NM_001909.4:c.947G>A	NP_001900.1:p.Gly316Glu
NM_001909.5:c.947G>A MANE Select	NP_001900.1:p.Gly316Glu