Canonical Allele Identifier: CA5813957

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1927371
• ClinVar RCV Id: RCV002609842
• dbSNP Id: rs747529123
• ExAC: 11:1775138 G / A
• gnomAD v2: 11-1775138-G-A
• gnomAD v3: 11-1753908-G-A
• gnomAD v4: 11-1753908-G-A
• MyVariant Identifiers: chr11:g.1775138G>A (hg19) ; chr11:g.1753908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753908G>A , CM000673.2:g.1753908G>A	GRCh38
NC_000011.9:g.1775138G>A , CM000673.1:g.1775138G>A	GRCh37
NC_000011.8:g.1731714G>A	NCBI36
NG_008655.1:g.15085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.973-7C>T MANE Select	ENSP00000236671.2:n.973-7C>T
ENST00000367196.4:c.868-7C>T	ENSP00000356164.4:n.868-7C>T
ENST00000427721.3:c.398-7C>T
ENST00000429746.2:c.868-7C>T	ENSP00000402586.2:n.868-7C>T
ENST00000433655.6:c.*139-7C>T	ENSP00000404902.1:n.*139-7C>T
ENST00000438213.6:c.1090-7C>T	ENSP00000415036.2:n.1090-7C>T
ENST00000497544.3:n.674C>T
ENST00000636397.1:c.973-7C>T	ENSP00000489910.1:n.973-7C>T
ENST00000636571.1:c.952-7C>T	ENSP00000490770.1:n.952-7C>T
ENST00000636615.1:c.973-7C>T	ENSP00000490014.1:n.973-7C>T
ENST00000636843.1:c.967-7C>T	ENSP00000490897.1:n.967-7C>T
ENST00000637158.1:n.571-7C>T
ENST00000637381.2:n.3401-7C>T
ENST00000637387.1:c.973-28C>T	ENSP00000490598.1:n.973-28C>T
ENST00000637815.2:c.955-7C>T	ENSP00000490344.1:n.955-7C>T
ENST00000637915.1:c.973-7C>T	ENSP00000490471.1:n.973-7C>T
ENST00000637937.1:n.281-7C>T
ENST00000678991.1:c.*834-7C>T	ENSP00000503019.1:n.*834-7C>T
ENST00000236671.6:c.973-7C>T	ENSP00000236671.2:n.973-7C>T
ENST00000427721.2:c.373-7C>T	ENSP00000415840.2:n.373-7C>T
ENST00000429746.1:c.304-7C>T	ENSP00000402586.1:n.304-7C>T
ENST00000433655.5:c.*139-7C>T	ENSP00000404902.1:n.*139-7C>T
ENST00000497544.1:n.674C>T
NM_001909.4:c.973-7C>T	NP_001900.1:n.973-7C>T
NM_001909.5:c.973-7C>T MANE Select	NP_001900.1:n.973-7C>T