Canonical Allele Identifier: CA290558

Gene: CTSD

Linked Data

• ClinVar Variation Id: 137062
• ClinVar RCV Id: RCV000124651 ; RCV000625069 ; RCV002055521
• dbSNP Id: rs369602025
• ExAC: 11:1776123 A / G
• gnomAD v2: 11-1776123-A-G
• gnomAD v3: 11-1754893-A-G
• gnomAD v4: 11-1754893-A-G
• MyVariant Identifiers: chr11:g.1776123A>G (hg19) ; chr11:g.1754893A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754893A>G , CM000673.2:g.1754893A>G	GRCh38
NC_000011.9:g.1776123A>G , CM000673.1:g.1776123A>G	GRCh37
NC_000011.8:g.1732699A>G	NCBI36
NG_008655.1:g.14100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.827+13T>C MANE Select	ENSP00000236671.2:n.827+13T>C
ENST00000367196.4:c.722+13T>C	ENSP00000356164.4:n.722+13T>C
ENST00000427721.3:c.252+13T>C
ENST00000429746.2:c.722+13T>C	ENSP00000402586.2:n.722+13T>C
ENST00000433655.6:c.831+9T>C	ENSP00000404902.1:n.831+9T>C
ENST00000438213.6:c.827+13T>C	ENSP00000415036.2:n.827+13T>C
ENST00000497544.3:n.443+13T>C
ENST00000636397.1:c.827+13T>C	ENSP00000489910.1:n.827+13T>C
ENST00000636571.1:c.806+13T>C	ENSP00000490770.1:n.806+13T>C
ENST00000636615.1:c.827+13T>C	ENSP00000490014.1:n.827+13T>C
ENST00000636843.1:c.821+13T>C	ENSP00000490897.1:n.821+13T>C
ENST00000637158.1:n.425+13T>C
ENST00000637381.2:n.3255+13T>C
ENST00000637387.1:c.827+13T>C	ENSP00000490598.1:n.827+13T>C
ENST00000637815.2:c.809+31T>C	ENSP00000490344.1:n.809+31T>C
ENST00000637915.1:c.827+13T>C	ENSP00000490471.1:n.827+13T>C
ENST00000637937.1:n.135+13T>C
ENST00000678991.1:c.*688+13T>C	ENSP00000503019.1:n.*688+13T>C
ENST00000236671.6:c.827+13T>C	ENSP00000236671.2:n.827+13T>C
ENST00000427721.2:c.227+13T>C	ENSP00000415840.2:n.227+13T>C
ENST00000429746.1:c.41+13T>C	ENSP00000402586.1:n.41+13T>C
ENST00000433655.5:c.831+9T>C	ENSP00000404902.1:n.831+9T>C
ENST00000438213.5:c.782+13T>C	ENSP00000415036.1:n.782+13T>C
ENST00000497544.1:n.443+13T>C
NM_001909.4:c.827+13T>C	NP_001900.1:n.827+13T>C
NM_001909.5:c.827+13T>C MANE Select	NP_001900.1:n.827+13T>C