Canonical Allele Identifier: CA205006628

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 1661820
• ClinVar RCV Id: RCV002193269
• dbSNP Id: rs890568264
• gnomAD v2: 10-26986784-C-A
• gnomAD v3: 10-26697855-C-A
• gnomAD v4: 10-26697855-C-A
• MyVariant Identifiers: chr10:g.26986784C>A (hg19) ; chr10:g.26697855C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697855C>A , CM000672.2:g.26697855C>A	GRCh38
NC_000010.10:g.26986784C>A , CM000672.1:g.26986784C>A	GRCh37
NC_000010.9:g.27026790C>A	NCBI36
NG_008972.1:g.5190C>A
NG_008972.2:g.5190C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+15C>A MANE Select	ENSP00000365388.5:n.129+15C>A
ENST00000376215.9:c.129+15C>A	ENSP00000365388.5:n.129+15C>A
NM_014317.3:c.129+15C>A	NP_055132.2:n.129+15C>A
XR_428636.2:n.417+15C>A
XR_930486.1:n.417+15C>A
NM_001321978.1:c.129+15C>A	NP_001308907.1:n.129+15C>A
NM_001321979.1:c.-465+15C>A	NP_001308908.1:n.-465+15C>A
NM_014317.4:c.129+15C>A	NP_055132.2:n.129+15C>A
XM_024447922.1:c.129+15C>A	XP_024303690.1:n.129+15C>A
XR_428636.4:n.417+15C>A
NM_014317.5:c.129+15C>A MANE Select	NP_055132.2:n.129+15C>A
NM_001321978.2:c.129+15C>A	NP_001308907.1:n.129+15C>A
NM_001321979.2:c.-465+15C>A	NP_001308908.1:n.-465+15C>A