Canonical Allele Identifier: CA314308

Gene: CTSD

Linked Data

• ClinVar Variation Id: 205332
• ClinVar RCV Id: RCV000187288 ; RCV000554524 ; RCV002381627
• dbSNP Id: rs369229897
• ExAC: 11:1775239 C / T
• gnomAD v2: 11-1775239-C-T
• gnomAD v3: 11-1754009-C-T
• gnomAD v4: 11-1754009-C-T
• MyVariant Identifiers: chr11:g.1775239C>T (hg19) ; chr11:g.1754009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754009C>T , CM000673.2:g.1754009C>T	GRCh38
NC_000011.9:g.1775239C>T , CM000673.1:g.1775239C>T	GRCh37
NC_000011.8:g.1731815C>T	NCBI36
NG_008655.1:g.14984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.957G>A MANE Select	ENSP00000236671.2:p.Pro319=
ENST00000367196.4:c.852G>A	ENSP00000356164.4:p.Pro284=
ENST00000427721.3:c.382G>A
ENST00000429746.2:c.852G>A	ENSP00000402586.2:p.Pro284=
ENST00000433655.6:c.*123G>A	ENSP00000404902.1:n.*123G>A
ENST00000438213.6:c.1074G>A	ENSP00000415036.2:p.Pro358=
ENST00000497544.3:n.573G>A
ENST00000636397.1:c.957G>A	ENSP00000489910.1:p.Pro319=
ENST00000636571.1:c.936G>A	ENSP00000490770.1:p.Pro312=
ENST00000636615.1:c.957G>A	ENSP00000490014.1:p.Pro319=
ENST00000636843.1:c.951G>A	ENSP00000490897.1:p.Pro317=
ENST00000637158.1:n.555G>A
ENST00000637381.2:n.3385G>A
ENST00000637387.1:c.957G>A	ENSP00000490598.1:p.Pro319=
ENST00000637815.2:c.939G>A	ENSP00000490344.1:p.Pro313=
ENST00000637915.1:c.957G>A	ENSP00000490471.1:p.Pro319=
ENST00000637937.1:n.265G>A
ENST00000678991.1:c.*818G>A	ENSP00000503019.1:n.*818G>A
ENST00000236671.6:c.957G>A	ENSP00000236671.2:p.Pro319=
ENST00000427721.2:c.357G>A	ENSP00000415840.2:p.Pro119=
ENST00000429746.1:c.288G>A	ENSP00000402586.1:p.Pro96=
ENST00000433655.5:c.*123G>A	ENSP00000404902.1:n.*123G>A
ENST00000497544.1:n.573G>A
NM_001909.4:c.957G>A	NP_001900.1:p.Pro319=
NM_001909.5:c.957G>A MANE Select	NP_001900.1:p.Pro319=