Canonical Allele Identifier: CA376488877

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697763-G-A
• MyVariant Identifiers: chr10:g.26986692G>A (hg19) ; chr10:g.26697763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697763G>A , CM000672.2:g.26697763G>A	GRCh38
NC_000010.10:g.26986692G>A , CM000672.1:g.26986692G>A	GRCh37
NC_000010.9:g.27026698G>A	NCBI36
NG_008972.1:g.5098G>A
NG_008972.2:g.5098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.52G>A MANE Select	ENSP00000365388.5:p.Ala18Thr
ENST00000376215.9:c.52G>A	ENSP00000365388.5:p.Ala18Thr
NM_014317.3:c.52G>A	NP_055132.2:p.Ala18Thr
XR_428636.2:n.340G>A
XR_930486.1:n.340G>A
NM_001321978.1:c.52G>A	NP_001308907.1:p.Ala18Thr
NM_001321979.1:c.-542G>A	NP_001308908.1:n.-542G>A
NM_014317.4:c.52G>A	NP_055132.2:p.Ala18Thr
XM_024447922.1:c.52G>A	XP_024303690.1:p.Ala18Thr
XR_428636.4:n.340G>A
NM_014317.5:c.52G>A MANE Select	NP_055132.2:p.Ala18Thr
NM_001321978.2:c.52G>A	NP_001308907.1:p.Ala18Thr
NM_001321979.2:c.-542G>A	NP_001308908.1:n.-542G>A