Canonical Allele Identifier: CA376488996

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 1933707
• ClinVar RCV Id: RCV002649736
• dbSNP Id: rs1241624890
• gnomAD v2: 10-26986753-C-T
• gnomAD v4: 10-26697824-C-T
• MyVariant Identifiers: chr10:g.26986753C>T (hg19) ; chr10:g.26697824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697824C>T , CM000672.2:g.26697824C>T	GRCh38
NC_000010.10:g.26986753C>T , CM000672.1:g.26986753C>T	GRCh37
NC_000010.9:g.27026759C>T	NCBI36
NG_008972.1:g.5159C>T
NG_008972.2:g.5159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.113C>T MANE Select	ENSP00000365388.5:p.Ala38Val
ENST00000376215.9:c.113C>T	ENSP00000365388.5:p.Ala38Val
NM_014317.3:c.113C>T	NP_055132.2:p.Ala38Val
XR_428636.2:n.401C>T
XR_930486.1:n.401C>T
NM_001321978.1:c.113C>T	NP_001308907.1:p.Ala38Val
NM_001321979.1:c.-481C>T	NP_001308908.1:n.-481C>T
NM_014317.4:c.113C>T	NP_055132.2:p.Ala38Val
XM_024447922.1:c.113C>T	XP_024303690.1:p.Ala38Val
XR_428636.4:n.401C>T
NM_014317.5:c.113C>T MANE Select	NP_055132.2:p.Ala38Val
NM_001321978.2:c.113C>T	NP_001308907.1:p.Ala38Val
NM_001321979.2:c.-481C>T	NP_001308908.1:n.-481C>T