Canonical Allele Identifier: CA472140774

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754018-C-A
• MyVariant Identifiers: chr11:g.1775248C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754018C>A , CM000673.2:g.1754018C>A	GRCh38
NC_000011.9:g.1775248C>A , CM000673.1:g.1775248C>A	GRCh37
NC_000011.8:g.1731824C>A	NCBI36
NG_008655.1:g.14975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.948G>T MANE Select	ENSP00000236671.2:p.Gly316=
ENST00000367196.4:c.843G>T	ENSP00000356164.4:p.Gly281=
ENST00000427721.3:c.373G>T
ENST00000429746.2:c.843G>T	ENSP00000402586.2:p.Gly281=
ENST00000433655.6:c.*114G>T	ENSP00000404902.1:n.*114G>T
ENST00000438213.6:c.1065G>T	ENSP00000415036.2:p.Gly355=
ENST00000497544.3:n.564G>T
ENST00000636397.1:c.948G>T	ENSP00000489910.1:p.Gly316=
ENST00000636571.1:c.927G>T	ENSP00000490770.1:p.Gly309=
ENST00000636615.1:c.948G>T	ENSP00000490014.1:p.Gly316=
ENST00000636843.1:c.942G>T	ENSP00000490897.1:p.Gly314=
ENST00000637158.1:n.546G>T
ENST00000637381.2:n.3376G>T
ENST00000637387.1:c.948G>T	ENSP00000490598.1:p.Gly316=
ENST00000637815.2:c.930G>T	ENSP00000490344.1:p.Gly310=
ENST00000637915.1:c.948G>T	ENSP00000490471.1:p.Gly316=
ENST00000637937.1:n.256G>T
ENST00000678991.1:c.*809G>T	ENSP00000503019.1:n.*809G>T
ENST00000236671.6:c.948G>T	ENSP00000236671.2:p.Gly316=
ENST00000427721.2:c.348G>T	ENSP00000415840.2:p.Gly116=
ENST00000429746.1:c.279G>T	ENSP00000402586.1:p.Gly93=
ENST00000433655.5:c.*114G>T	ENSP00000404902.1:n.*114G>T
ENST00000497544.1:n.564G>T
NM_001909.4:c.948G>T	NP_001900.1:p.Gly316=
NM_001909.5:c.948G>T MANE Select	NP_001900.1:p.Gly316=