Canonical Allele Identifier: CA472140860

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754036-C-T
• MyVariant Identifiers: chr11:g.1775266C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754036C>T , CM000673.2:g.1754036C>T	GRCh38
NC_000011.9:g.1775266C>T , CM000673.1:g.1775266C>T	GRCh37
NC_000011.8:g.1731842C>T	NCBI36
NG_008655.1:g.14957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.930G>A MANE Select	ENSP00000236671.2:p.Glu310=
ENST00000367196.4:c.825G>A	ENSP00000356164.4:p.Glu275=
ENST00000427721.3:c.355G>A
ENST00000429746.2:c.825G>A	ENSP00000402586.2:p.Glu275=
ENST00000433655.6:c.*96G>A	ENSP00000404902.1:n.*96G>A
ENST00000438213.6:c.1047G>A	ENSP00000415036.2:p.Glu349=
ENST00000497544.3:n.546G>A
ENST00000636397.1:c.930G>A	ENSP00000489910.1:p.Glu310=
ENST00000636571.1:c.909G>A	ENSP00000490770.1:p.Glu303=
ENST00000636615.1:c.930G>A	ENSP00000490014.1:p.Glu310=
ENST00000636843.1:c.924G>A	ENSP00000490897.1:p.Glu308=
ENST00000637158.1:n.528G>A
ENST00000637381.2:n.3358G>A
ENST00000637387.1:c.930G>A	ENSP00000490598.1:p.Glu310=
ENST00000637815.2:c.912G>A	ENSP00000490344.1:p.Glu304=
ENST00000637915.1:c.930G>A	ENSP00000490471.1:p.Glu310=
ENST00000637937.1:n.238G>A
ENST00000678991.1:c.*791G>A	ENSP00000503019.1:n.*791G>A
ENST00000236671.6:c.930G>A	ENSP00000236671.2:p.Glu310=
ENST00000427721.2:c.330G>A	ENSP00000415840.2:p.Glu110=
ENST00000429746.1:c.261G>A	ENSP00000402586.1:p.Glu87=
ENST00000433655.5:c.*96G>A	ENSP00000404902.1:n.*96G>A
ENST00000438213.5:c.885G>A	ENSP00000415036.1:p.Glu295=
ENST00000497544.1:n.546G>A
NM_001909.4:c.930G>A	NP_001900.1:p.Glu310=
NM_001909.5:c.930G>A MANE Select	NP_001900.1:p.Glu310=