Canonical Allele Identifier: CA376488933

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697793-C-A
• MyVariant Identifiers: chr10:g.26986722C>A (hg19) ; chr10:g.26697793C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697793C>A , CM000672.2:g.26697793C>A	GRCh38
NC_000010.10:g.26986722C>A , CM000672.1:g.26986722C>A	GRCh37
NC_000010.9:g.27026728C>A	NCBI36
NG_008972.1:g.5128C>A
NG_008972.2:g.5128C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.82C>A MANE Select	ENSP00000365388.5:p.Arg28Ser
ENST00000376215.9:c.82C>A	ENSP00000365388.5:p.Arg28Ser
NM_014317.3:c.82C>A	NP_055132.2:p.Arg28Ser
XR_428636.2:n.370C>A
XR_930486.1:n.370C>A
NM_001321978.1:c.82C>A	NP_001308907.1:p.Arg28Ser
NM_001321979.1:c.-512C>A	NP_001308908.1:n.-512C>A
NM_014317.4:c.82C>A	NP_055132.2:p.Arg28Ser
XM_024447922.1:c.82C>A	XP_024303690.1:p.Arg28Ser
XR_428636.4:n.370C>A
NM_014317.5:c.82C>A MANE Select	NP_055132.2:p.Arg28Ser
NM_001321978.2:c.82C>A	NP_001308907.1:p.Arg28Ser
NM_001321979.2:c.-512C>A	NP_001308908.1:n.-512C>A