Canonical Allele Identifier: CA472140804

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2739133
• ClinVar RCV Id: RCV003531602
• dbSNP Id: rs1845763239
• gnomAD v4: 11-1754024-G-A
• MyVariant Identifiers: chr11:g.1775254G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754024G>A , CM000673.2:g.1754024G>A	GRCh38
NC_000011.9:g.1775254G>A , CM000673.1:g.1775254G>A	GRCh37
NC_000011.8:g.1731830G>A	NCBI36
NG_008655.1:g.14969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.942C>T MANE Select	ENSP00000236671.2:p.Ala314=
ENST00000367196.4:c.837C>T	ENSP00000356164.4:p.Ala279=
ENST00000427721.3:c.367C>T
ENST00000429746.2:c.837C>T	ENSP00000402586.2:p.Ala279=
ENST00000433655.6:c.*108C>T	ENSP00000404902.1:n.*108C>T
ENST00000438213.6:c.1059C>T	ENSP00000415036.2:p.Ala353=
ENST00000497544.3:n.558C>T
ENST00000636397.1:c.942C>T	ENSP00000489910.1:p.Ala314=
ENST00000636571.1:c.921C>T	ENSP00000490770.1:p.Ala307=
ENST00000636615.1:c.942C>T	ENSP00000490014.1:p.Ala314=
ENST00000636843.1:c.936C>T	ENSP00000490897.1:p.Ala312=
ENST00000637158.1:n.540C>T
ENST00000637381.2:n.3370C>T
ENST00000637387.1:c.942C>T	ENSP00000490598.1:p.Ala314=
ENST00000637815.2:c.924C>T	ENSP00000490344.1:p.Ala308=
ENST00000637915.1:c.942C>T	ENSP00000490471.1:p.Ala314=
ENST00000637937.1:n.250C>T
ENST00000678991.1:c.*803C>T	ENSP00000503019.1:n.*803C>T
ENST00000236671.6:c.942C>T	ENSP00000236671.2:p.Ala314=
ENST00000427721.2:c.342C>T	ENSP00000415840.2:p.Ala114=
ENST00000429746.1:c.273C>T	ENSP00000402586.1:p.Ala91=
ENST00000433655.5:c.*108C>T	ENSP00000404902.1:n.*108C>T
ENST00000438213.5:c.897C>T	ENSP00000415036.1:p.Ala299=
ENST00000497544.1:n.558C>T
NM_001909.4:c.942C>T	NP_001900.1:p.Ala314=
NM_001909.5:c.942C>T MANE Select	NP_001900.1:p.Ala314=