Canonical Allele Identifier: CA2608594863

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697704-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697704C>A , CM000672.2:g.26697704C>A	GRCh38
NC_000010.10:g.26986633C>A , CM000672.1:g.26986633C>A	GRCh37
NC_000010.9:g.27026639C>A	NCBI36
NG_008972.1:g.5039C>A
NG_008972.2:g.5039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.-8C>A MANE Select	ENSP00000365388.5:n.-8C>A
ENST00000376215.9:c.-8C>A	ENSP00000365388.5:n.-8C>A
NM_014317.3:c.-8C>A	NP_055132.2:n.-8C>A
XR_428636.2:n.281C>A
XR_930486.1:n.281C>A
NM_001321978.1:c.-8C>A	NP_001308907.1:n.-8C>A
NM_001321979.1:c.-601C>A	NP_001308908.1:n.-601C>A
NM_014317.4:c.-8C>A	NP_055132.2:n.-8C>A
XM_024447922.1:c.-8C>A	XP_024303690.1:n.-8C>A
XR_428636.4:n.281C>A
NM_014317.5:c.-8C>A MANE Select	NP_055132.2:n.-8C>A
NM_001321978.2:c.-8C>A	NP_001308907.1:n.-8C>A
NM_001321979.2:c.-601C>A	NP_001308908.1:n.-601C>A