Canonical Allele Identifier: CA376489034

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697841-G-A
• MyVariant Identifiers: chr10:g.26986770G>A (hg19) ; chr10:g.26697841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697841G>A , CM000672.2:g.26697841G>A	GRCh38
NC_000010.10:g.26986770G>A , CM000672.1:g.26986770G>A	GRCh37
NC_000010.9:g.27026776G>A	NCBI36
NG_008972.1:g.5176G>A
NG_008972.2:g.5176G>A

Transcript Alleles

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