Canonical Allele Identifier: CA216175744

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2051320
• ClinVar RCV Id: RCV002927164
• dbSNP Id: rs145281838
• gnomAD v4: 11-1759613-G-A
• MyVariant Identifiers: chr11:g.1780843G>A (hg19) ; chr11:g.1759613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759613G>A , CM000673.2:g.1759613G>A	GRCh38
NC_000011.9:g.1780843G>A , CM000673.1:g.1780843G>A	GRCh37
NC_000011.8:g.1737419G>A	NCBI36
NG_008655.1:g.9380C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.255C>T MANE Select	ENSP00000236671.2:p.Ile85=
ENST00000367196.4:c.150C>T	ENSP00000356164.4:p.Ile50=
ENST00000429746.2:c.150C>T	ENSP00000402586.2:p.Ile50=
ENST00000433655.6:c.255C>T	ENSP00000404902.1:p.Ile85=
ENST00000438213.6:c.255C>T	ENSP00000415036.2:p.Ile85=
ENST00000636397.1:c.255C>T	ENSP00000489910.1:p.Ile85=
ENST00000636571.1:c.234C>T	ENSP00000490770.1:p.Ile78=
ENST00000636615.1:c.255C>T	ENSP00000490014.1:p.Ile85=
ENST00000636843.1:c.249C>T	ENSP00000490897.1:p.Ile83=
ENST00000637381.2:n.2683C>T
ENST00000637387.1:c.255C>T	ENSP00000490598.1:p.Ile85=
ENST00000637815.2:c.255C>T	ENSP00000490344.1:p.Ile85=
ENST00000637915.1:c.255C>T	ENSP00000490471.1:p.Ile85=
ENST00000677300.1:n.650C>T
ENST00000678991.1:c.*116C>T	ENSP00000503019.1:n.*116C>T
ENST00000236671.6:c.255C>T	ENSP00000236671.2:p.Ile85=
ENST00000367196.3:c.150C>T	ENSP00000356164.3:p.Ile50=
ENST00000433655.5:c.255C>T	ENSP00000404902.1:p.Ile85=
ENST00000438213.5:c.210C>T	ENSP00000415036.1:p.Ile70=
NM_001909.4:c.255C>T	NP_001900.1:p.Ile85=
NM_001909.5:c.255C>T MANE Select	NP_001900.1:p.Ile85=