Canonical Allele Identifier: CA468624863

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697840-G-A
• MyVariant Identifiers: chr10:g.26986769G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697840G>A , CM000672.2:g.26697840G>A	GRCh38
NC_000010.10:g.26986769G>A , CM000672.1:g.26986769G>A	GRCh37
NC_000010.9:g.27026775G>A	NCBI36
NG_008972.1:g.5175G>A
NG_008972.2:g.5175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129G>A MANE Select	ENSP00000365388.5:p.Gln43=
ENST00000376215.9:c.129G>A	ENSP00000365388.5:p.Gln43=
NM_014317.3:c.129G>A	NP_055132.2:p.Gln43=
XR_428636.2:n.417G>A
XR_930486.1:n.417G>A
NM_001321978.1:c.129G>A	NP_001308907.1:p.Gln43=
NM_001321979.1:c.-465G>A	NP_001308908.1:n.-465G>A
NM_014317.4:c.129G>A	NP_055132.2:p.Gln43=
XM_024447922.1:c.129G>A	XP_024303690.1:p.Gln43=
XR_428636.4:n.417G>A
NM_014317.5:c.129G>A MANE Select	NP_055132.2:p.Gln43=
NM_001321978.2:c.129G>A	NP_001308907.1:p.Gln43=
NM_001321979.2:c.-465G>A	NP_001308908.1:n.-465G>A