Canonical Allele Identifier: CA314348

Gene: CTSD

Linked Data

• ClinVar Variation Id: 205353
• ClinVar RCV Id: RCV000231366 ; RCV000727458 ; RCV000763725 ; RCV002372146 ; RCV003967472
• dbSNP Id: rs757712173
• ExAC: 11:1785082 G / A
• gnomAD v2: 11-1785082-G-A
• gnomAD v3: 11-1763852-G-A
• gnomAD v4: 11-1763852-G-A
• MyVariant Identifiers: chr11:g.1785082G>A (hg19) ; chr11:g.1763852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1763852G>A , CM000673.2:g.1763852G>A	GRCh38
NC_000011.9:g.1785082G>A , CM000673.1:g.1785082G>A	GRCh37
NC_000011.8:g.1741658G>A	NCBI36
NG_008655.1:g.5141C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.8C>T MANE Select	ENSP00000236671.2:p.Pro3Leu
ENST00000429746.2:c.-38+668C>T	ENSP00000402586.2:n.-38+668C>T
ENST00000433655.6:c.8C>T	ENSP00000404902.1:p.Pro3Leu
ENST00000438213.6:c.8C>T	ENSP00000415036.2:p.Pro3Leu
ENST00000636397.1:c.8C>T	ENSP00000489910.1:p.Pro3Leu
ENST00000636571.1:c.8C>T	ENSP00000490770.1:p.Pro3Leu
ENST00000636615.1:c.8C>T	ENSP00000490014.1:p.Pro3Leu
ENST00000636843.1:c.8C>T	ENSP00000490897.1:p.Pro3Leu
ENST00000637381.2:n.113C>T
ENST00000637387.1:c.8C>T	ENSP00000490598.1:p.Pro3Leu
ENST00000637815.2:c.8C>T	ENSP00000490344.1:p.Pro3Leu
ENST00000637915.1:c.8C>T	ENSP00000490471.1:p.Pro3Leu
ENST00000678991.1:c.8C>T	ENSP00000503019.1:p.Pro3Leu
ENST00000236671.6:c.8C>T	ENSP00000236671.2:p.Pro3Leu
ENST00000433655.5:c.8C>T	ENSP00000404902.1:p.Pro3Leu
NM_001909.4:c.8C>T	NP_001900.1:p.Pro3Leu
NM_001909.5:c.8C>T MANE Select	NP_001900.1:p.Pro3Leu