Canonical Allele Identifier: CA376489031

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697840-G-T
• MyVariant Identifiers: chr10:g.26986769G>T (hg19) ; chr10:g.26697840G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129G>T MANE Select	ENSP00000365388.5:p.Gln43His
ENST00000376215.9:c.129G>T	ENSP00000365388.5:p.Gln43His
NM_014317.3:c.129G>T	NP_055132.2:p.Gln43His
XR_428636.2:n.417G>T
XR_930486.1:n.417G>T
NM_001321978.1:c.129G>T	NP_001308907.1:p.Gln43His
NM_001321979.1:c.-465G>T	NP_001308908.1:n.-465G>T
NM_014317.4:c.129G>T	NP_055132.2:p.Gln43His
XM_024447922.1:c.129G>T	XP_024303690.1:p.Gln43His
XR_428636.4:n.417G>T
NM_014317.5:c.129G>T MANE Select	NP_055132.2:p.Gln43His
NM_001321978.2:c.129G>T	NP_001308907.1:p.Gln43His
NM_001321979.2:c.-465G>T	NP_001308908.1:n.-465G>T