Canonical Allele Identifier: CA379093379

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1021785
• ClinVar RCV Id: RCV001321603
• dbSNP Id: rs796052397
• gnomAD v4: 11-1753892-G-A
• MyVariant Identifiers: chr11:g.1775122G>A (hg19) ; chr11:g.1753892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753892G>A , CM000673.2:g.1753892G>A	GRCh38
NC_000011.9:g.1775122G>A , CM000673.1:g.1775122G>A	GRCh37
NC_000011.8:g.1731698G>A	NCBI36
NG_008655.1:g.15101C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.982C>T MANE Select	ENSP00000236671.2:p.Pro328Ser
ENST00000367196.4:c.877C>T	ENSP00000356164.4:p.Pro293Ser
ENST00000427721.3:c.407C>T
ENST00000429746.2:c.877C>T	ENSP00000402586.2:p.Pro293Ser
ENST00000433655.6:c.*148C>T	ENSP00000404902.1:n.*148C>T
ENST00000438213.6:c.1099C>T	ENSP00000415036.2:p.Pro367Ser
ENST00000497544.3:n.690C>T
ENST00000636397.1:c.982C>T	ENSP00000489910.1:p.Pro328Ser
ENST00000636571.1:c.961C>T	ENSP00000490770.1:p.Pro321Ser
ENST00000636615.1:c.982C>T	ENSP00000490014.1:p.Pro328Ser
ENST00000636843.1:c.976C>T	ENSP00000490897.1:p.Pro326Ser
ENST00000637158.1:n.580C>T
ENST00000637381.2:n.3410C>T
ENST00000637387.1:c.973-12C>T	ENSP00000490598.1:n.973-12C>T
ENST00000637815.2:c.964C>T	ENSP00000490344.1:p.Pro322Ser
ENST00000637915.1:c.982C>T	ENSP00000490471.1:p.Pro328Ser
ENST00000637937.1:n.290C>T
ENST00000678991.1:c.*843C>T	ENSP00000503019.1:n.*843C>T
ENST00000236671.6:c.982C>T	ENSP00000236671.2:p.Pro328Ser
ENST00000427721.2:c.382C>T	ENSP00000415840.2:p.Pro128Ser
ENST00000429746.1:c.313C>T	ENSP00000402586.1:p.Pro105Ser
ENST00000433655.5:c.*148C>T	ENSP00000404902.1:n.*148C>T
ENST00000497544.1:n.690C>T
NM_001909.4:c.982C>T	NP_001900.1:p.Pro328Ser
NM_001909.5:c.982C>T MANE Select	NP_001900.1:p.Pro328Ser