Canonical Allele Identifier: CA472140878

Gene: CTSD

Linked Data

• ClinVar Variation Id: 659721
• ClinVar RCV Id: RCV000816766
• dbSNP Id: rs1174115566
• gnomAD v2: 11-1775269-G-A
• gnomAD v3: 11-1754039-G-A
• gnomAD v4: 11-1754039-G-A
• MyVariant Identifiers: chr11:g.1775269G>A (hg19) ; chr11:g.1754039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754039G>A , CM000673.2:g.1754039G>A	GRCh38
NC_000011.9:g.1775269G>A , CM000673.1:g.1775269G>A	GRCh37
NC_000011.8:g.1731845G>A	NCBI36
NG_008655.1:g.14954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.927C>T MANE Select	ENSP00000236671.2:p.Arg309=
ENST00000367196.4:c.822C>T	ENSP00000356164.4:p.Arg274=
ENST00000427721.3:c.352C>T
ENST00000429746.2:c.822C>T	ENSP00000402586.2:p.Arg274=
ENST00000433655.6:c.*93C>T	ENSP00000404902.1:n.*93C>T
ENST00000438213.6:c.1044C>T	ENSP00000415036.2:p.Arg348=
ENST00000497544.3:n.543C>T
ENST00000636397.1:c.927C>T	ENSP00000489910.1:p.Arg309=
ENST00000636571.1:c.906C>T	ENSP00000490770.1:p.Arg302=
ENST00000636615.1:c.927C>T	ENSP00000490014.1:p.Arg309=
ENST00000636843.1:c.921C>T	ENSP00000490897.1:p.Arg307=
ENST00000637158.1:n.525C>T
ENST00000637381.2:n.3355C>T
ENST00000637387.1:c.927C>T	ENSP00000490598.1:p.Arg309=
ENST00000637815.2:c.909C>T	ENSP00000490344.1:p.Arg303=
ENST00000637915.1:c.927C>T	ENSP00000490471.1:p.Arg309=
ENST00000637937.1:n.235C>T
ENST00000678991.1:c.*788C>T	ENSP00000503019.1:n.*788C>T
ENST00000236671.6:c.927C>T	ENSP00000236671.2:p.Arg309=
ENST00000427721.2:c.327C>T	ENSP00000415840.2:p.Arg109=
ENST00000429746.1:c.258C>T	ENSP00000402586.1:p.Arg86=
ENST00000433655.5:c.*93C>T	ENSP00000404902.1:n.*93C>T
ENST00000438213.5:c.882C>T	ENSP00000415036.1:p.Arg294=
ENST00000497544.1:n.543C>T
NM_001909.4:c.927C>T	NP_001900.1:p.Arg309=
NM_001909.5:c.927C>T MANE Select	NP_001900.1:p.Arg309=