Canonical Allele Identifier: CA216175515

Gene: CTSD

Linked Data

• ClinVar Variation Id: 527775
• ClinVar RCV Id: RCV001505872
• dbSNP Id: rs944771031
• gnomAD v2: 11-1780738-T-A
• gnomAD v3: 11-1759508-T-A
• gnomAD v4: 11-1759508-T-A
• MyVariant Identifiers: chr11:g.1780738T>A (hg19) ; chr11:g.1759508T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759508T>A , CM000673.2:g.1759508T>A	GRCh38
NC_000011.9:g.1780738T>A , CM000673.1:g.1780738T>A	GRCh37
NC_000011.8:g.1737314T>A	NCBI36
NG_008655.1:g.9485A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.352+8A>T MANE Select	ENSP00000236671.2:n.352+8A>T
ENST00000367196.4:c.247+8A>T	ENSP00000356164.4:n.247+8A>T
ENST00000429746.2:c.247+8A>T	ENSP00000402586.2:n.247+8A>T
ENST00000433655.6:c.352+8A>T	ENSP00000404902.1:n.352+8A>T
ENST00000438213.6:c.352+8A>T	ENSP00000415036.2:n.352+8A>T
ENST00000636397.1:c.352+8A>T	ENSP00000489910.1:n.352+8A>T
ENST00000636571.1:c.331+8A>T	ENSP00000490770.1:n.331+8A>T
ENST00000636615.1:c.352+8A>T	ENSP00000490014.1:n.352+8A>T
ENST00000636843.1:c.346+8A>T	ENSP00000490897.1:n.346+8A>T
ENST00000637381.2:n.2780+8A>T
ENST00000637387.1:c.352+8A>T	ENSP00000490598.1:n.352+8A>T
ENST00000637815.2:c.352+8A>T	ENSP00000490344.1:n.352+8A>T
ENST00000637915.1:c.352+8A>T	ENSP00000490471.1:n.352+8A>T
ENST00000677300.1:n.747+8A>T
ENST00000678991.1:c.*213+8A>T	ENSP00000503019.1:n.*213+8A>T
ENST00000236671.6:c.352+8A>T	ENSP00000236671.2:n.352+8A>T
ENST00000367196.3:c.247+8A>T	ENSP00000356164.3:n.247+8A>T
ENST00000433655.5:c.352+8A>T	ENSP00000404902.1:n.352+8A>T
ENST00000438213.5:c.307+8A>T	ENSP00000415036.1:n.307+8A>T
NM_001909.4:c.352+8A>T	NP_001900.1:n.352+8A>T
NM_001909.5:c.352+8A>T MANE Select	NP_001900.1:n.352+8A>T