Canonical Allele Identifier: CA5813960

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2754874
• ClinVar RCV Id: RCV003531810
• dbSNP Id: rs746052248
• ExAC: 11:1775143 C / T
• gnomAD v2: 11-1775143-C-T
• gnomAD v4: 11-1753913-C-T
• MyVariant Identifiers: chr11:g.1775143C>T (hg19) ; chr11:g.1753913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753913C>T , CM000673.2:g.1753913C>T	GRCh38
NC_000011.9:g.1775143C>T , CM000673.1:g.1775143C>T	GRCh37
NC_000011.8:g.1731719C>T	NCBI36
NG_008655.1:g.15080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.973-12G>A MANE Select	ENSP00000236671.2:n.973-12G>A
ENST00000367196.4:c.868-12G>A	ENSP00000356164.4:n.868-12G>A
ENST00000427721.3:c.398-12G>A
ENST00000429746.2:c.868-12G>A	ENSP00000402586.2:n.868-12G>A
ENST00000433655.6:c.*139-12G>A	ENSP00000404902.1:n.*139-12G>A
ENST00000438213.6:c.1090-12G>A	ENSP00000415036.2:n.1090-12G>A
ENST00000497544.3:n.669G>A
ENST00000636397.1:c.973-12G>A	ENSP00000489910.1:n.973-12G>A
ENST00000636571.1:c.952-12G>A	ENSP00000490770.1:n.952-12G>A
ENST00000636615.1:c.973-12G>A	ENSP00000490014.1:n.973-12G>A
ENST00000636843.1:c.967-12G>A	ENSP00000490897.1:n.967-12G>A
ENST00000637158.1:n.571-12G>A
ENST00000637381.2:n.3401-12G>A
ENST00000637387.1:c.973-33G>A	ENSP00000490598.1:n.973-33G>A
ENST00000637815.2:c.955-12G>A	ENSP00000490344.1:n.955-12G>A
ENST00000637915.1:c.973-12G>A	ENSP00000490471.1:n.973-12G>A
ENST00000637937.1:n.281-12G>A
ENST00000678991.1:c.*834-12G>A	ENSP00000503019.1:n.*834-12G>A
ENST00000236671.6:c.973-12G>A	ENSP00000236671.2:n.973-12G>A
ENST00000427721.2:c.373-12G>A	ENSP00000415840.2:n.373-12G>A
ENST00000429746.1:c.304-12G>A	ENSP00000402586.1:n.304-12G>A
ENST00000433655.5:c.*139-12G>A	ENSP00000404902.1:n.*139-12G>A
ENST00000497544.1:n.669G>A
NM_001909.4:c.973-12G>A	NP_001900.1:n.973-12G>A
NM_001909.5:c.973-12G>A MANE Select	NP_001900.1:n.973-12G>A