Canonical Allele Identifier: CA468624803

Gene: PDSS1

Linked Data

• dbSNP Id: rs1207354036
• gnomAD v2: 10-26986697-G-A
• gnomAD v4: 10-26697768-G-A
• MyVariant Identifiers: chr10:g.26986697G>A (hg19) ; chr10:g.26697768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697768G>A , CM000672.2:g.26697768G>A	GRCh38
NC_000010.10:g.26986697G>A , CM000672.1:g.26986697G>A	GRCh37
NC_000010.9:g.27026703G>A	NCBI36
NG_008972.1:g.5103G>A
NG_008972.2:g.5103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.57G>A MANE Select	ENSP00000365388.5:p.Arg19=
ENST00000376215.9:c.57G>A	ENSP00000365388.5:p.Arg19=
NM_014317.3:c.57G>A	NP_055132.2:p.Arg19=
XR_428636.2:n.345G>A
XR_930486.1:n.345G>A
NM_001321978.1:c.57G>A	NP_001308907.1:p.Arg19=
NM_001321979.1:c.-537G>A	NP_001308908.1:n.-537G>A
NM_014317.4:c.57G>A	NP_055132.2:p.Arg19=
XM_024447922.1:c.57G>A	XP_024303690.1:p.Arg19=
XR_428636.4:n.345G>A
NM_014317.5:c.57G>A MANE Select	NP_055132.2:p.Arg19=
NM_001321978.2:c.57G>A	NP_001308907.1:p.Arg19=
NM_001321979.2:c.-537G>A	NP_001308908.1:n.-537G>A