Canonical Allele Identifier: CA472140369

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2758618
• ClinVar RCV Id: RCV003531863
• COSMIC: COSM687031
• MyVariant Identifiers: chr11:g.1775093C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753863C>A , CM000673.2:g.1753863C>A	GRCh38
NC_000011.9:g.1775093C>A , CM000673.1:g.1775093C>A	GRCh37
NC_000011.8:g.1731669C>A	NCBI36
NG_008655.1:g.15130G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1011G>T MANE Select	ENSP00000236671.2:p.Ala337=
ENST00000367196.4:c.906G>T	ENSP00000356164.4:p.Ala302=
ENST00000427721.3:c.436G>T
ENST00000429746.2:c.906G>T	ENSP00000402586.2:p.Ala302=
ENST00000433655.6:c.*177G>T	ENSP00000404902.1:n.*177G>T
ENST00000438213.6:c.1128G>T	ENSP00000415036.2:p.Ala376=
ENST00000497544.3:n.719G>T
ENST00000636397.1:c.1011G>T	ENSP00000489910.1:p.Ala337=
ENST00000636571.1:c.990G>T	ENSP00000490770.1:p.Ala330=
ENST00000636579.1:c.12G>T	ENSP00000490489.1:p.Ala4=
ENST00000636615.1:c.1011G>T	ENSP00000490014.1:p.Ala337=
ENST00000636843.1:c.1005G>T	ENSP00000490897.1:p.Ala335=
ENST00000637158.1:n.609G>T
ENST00000637381.2:n.3439G>T
ENST00000637387.1:c.990G>T	ENSP00000490598.1:p.Ala330=
ENST00000637815.2:c.993G>T	ENSP00000490344.1:p.Ala331=
ENST00000637915.1:c.1011G>T	ENSP00000490471.1:p.Ala337=
ENST00000637937.1:n.319G>T
ENST00000678991.1:c.*872G>T	ENSP00000503019.1:n.*872G>T
ENST00000236671.6:c.1011G>T	ENSP00000236671.2:p.Ala337=
ENST00000427721.2:c.411G>T	ENSP00000415840.2:p.Ala137=
ENST00000429746.1:c.342G>T	ENSP00000402586.1:p.Ala114=
ENST00000433655.5:c.*177G>T	ENSP00000404902.1:n.*177G>T
ENST00000497544.1:n.719G>T
NM_001909.4:c.1011G>T	NP_001900.1:p.Ala337=
NM_001909.5:c.1011G>T MANE Select	NP_001900.1:p.Ala337=