Canonical Allele Identifier: CA376489004

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697828-A-T
• MyVariant Identifiers: chr10:g.26986757A>T (hg19) ; chr10:g.26697828A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697828A>T , CM000672.2:g.26697828A>T	GRCh38
NC_000010.10:g.26986757A>T , CM000672.1:g.26986757A>T	GRCh37
NC_000010.9:g.27026763A>T	NCBI36
NG_008972.1:g.5163A>T
NG_008972.2:g.5163A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.117A>T MANE Select	ENSP00000365388.5:p.Glu39Asp
ENST00000376215.9:c.117A>T	ENSP00000365388.5:p.Glu39Asp
NM_014317.3:c.117A>T	NP_055132.2:p.Glu39Asp
XR_428636.2:n.405A>T
XR_930486.1:n.405A>T
NM_001321978.1:c.117A>T	NP_001308907.1:p.Glu39Asp
NM_001321979.1:c.-477A>T	NP_001308908.1:n.-477A>T
NM_014317.4:c.117A>T	NP_055132.2:p.Glu39Asp
XM_024447922.1:c.117A>T	XP_024303690.1:p.Glu39Asp
XR_428636.4:n.405A>T
NM_014317.5:c.117A>T MANE Select	NP_055132.2:p.Glu39Asp
NM_001321978.2:c.117A>T	NP_001308907.1:p.Glu39Asp
NM_001321979.2:c.-477A>T	NP_001308908.1:n.-477A>T