Canonical Allele Identifier: CA376489020

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 1937637
• ClinVar RCV Id: RCV002653365
• dbSNP Id: rs1834914924
• gnomAD v3: 10-26697835-G-A
• gnomAD v4: 10-26697835-G-A
• MyVariant Identifiers: chr10:g.26986764G>A (hg19) ; chr10:g.26697835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697835G>A , CM000672.2:g.26697835G>A	GRCh38
NC_000010.10:g.26986764G>A , CM000672.1:g.26986764G>A	GRCh37
NC_000010.9:g.27026770G>A	NCBI36
NG_008972.1:g.5170G>A
NG_008972.2:g.5170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.124G>A MANE Select	ENSP00000365388.5:p.Ala42Thr
ENST00000376215.9:c.124G>A	ENSP00000365388.5:p.Ala42Thr
NM_014317.3:c.124G>A	NP_055132.2:p.Ala42Thr
XR_428636.2:n.412G>A
XR_930486.1:n.412G>A
NM_001321978.1:c.124G>A	NP_001308907.1:p.Ala42Thr
NM_001321979.1:c.-470G>A	NP_001308908.1:n.-470G>A
NM_014317.4:c.124G>A	NP_055132.2:p.Ala42Thr
XM_024447922.1:c.124G>A	XP_024303690.1:p.Ala42Thr
XR_428636.4:n.412G>A
NM_014317.5:c.124G>A MANE Select	NP_055132.2:p.Ala42Thr
NM_001321978.2:c.124G>A	NP_001308907.1:p.Ala42Thr
NM_001321979.2:c.-470G>A	NP_001308908.1:n.-470G>A