Canonical Allele Identifier: CA5813955

Gene: CTSD

Linked Data

• dbSNP Id: rs758768822
• ExAC: 11:1775123 G / A
• gnomAD v2: 11-1775123-G-A
• gnomAD v4: 11-1753893-G-A
• MyVariant Identifiers: chr11:g.1775123G>A (hg19) ; chr11:g.1753893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753893G>A , CM000673.2:g.1753893G>A	GRCh38
NC_000011.9:g.1775123G>A , CM000673.1:g.1775123G>A	GRCh37
NC_000011.8:g.1731699G>A	NCBI36
NG_008655.1:g.15100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.981C>T MANE Select	ENSP00000236671.2:p.Ile327=
ENST00000367196.4:c.876C>T	ENSP00000356164.4:p.Ile292=
ENST00000427721.3:c.406C>T
ENST00000429746.2:c.876C>T	ENSP00000402586.2:p.Ile292=
ENST00000433655.6:c.*147C>T	ENSP00000404902.1:n.*147C>T
ENST00000438213.6:c.1098C>T	ENSP00000415036.2:p.Ile366=
ENST00000497544.3:n.689C>T
ENST00000636397.1:c.981C>T	ENSP00000489910.1:p.Ile327=
ENST00000636571.1:c.960C>T	ENSP00000490770.1:p.Ile320=
ENST00000636615.1:c.981C>T	ENSP00000490014.1:p.Ile327=
ENST00000636843.1:c.975C>T	ENSP00000490897.1:p.Ile325=
ENST00000637158.1:n.579C>T
ENST00000637381.2:n.3409C>T
ENST00000637387.1:c.973-13C>T	ENSP00000490598.1:n.973-13C>T
ENST00000637815.2:c.963C>T	ENSP00000490344.1:p.Ile321=
ENST00000637915.1:c.981C>T	ENSP00000490471.1:p.Ile327=
ENST00000637937.1:n.289C>T
ENST00000678991.1:c.*842C>T	ENSP00000503019.1:n.*842C>T
ENST00000236671.6:c.981C>T	ENSP00000236671.2:p.Ile327=
ENST00000427721.2:c.381C>T	ENSP00000415840.2:p.Ile127=
ENST00000429746.1:c.312C>T	ENSP00000402586.1:p.Ile104=
ENST00000433655.5:c.*147C>T	ENSP00000404902.1:n.*147C>T
ENST00000497544.1:n.689C>T
NM_001909.4:c.981C>T	NP_001900.1:p.Ile327=
NM_001909.5:c.981C>T MANE Select	NP_001900.1:p.Ile327=