Canonical Allele Identifier: CA468624853

Gene: PDSS1

Linked Data

• dbSNP Id: rs1329018665
• gnomAD v2: 10-26986757-A-G
• gnomAD v3: 10-26697828-A-G
• gnomAD v4: 10-26697828-A-G
• MyVariant Identifiers: chr10:g.26986757A>G (hg19) ; chr10:g.26697828A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.117A>G MANE Select	ENSP00000365388.5:p.Glu39=
ENST00000376215.9:c.117A>G	ENSP00000365388.5:p.Glu39=
NM_014317.3:c.117A>G	NP_055132.2:p.Glu39=
XR_428636.2:n.405A>G
XR_930486.1:n.405A>G
NM_001321978.1:c.117A>G	NP_001308907.1:p.Glu39=
NM_001321979.1:c.-477A>G	NP_001308908.1:n.-477A>G
NM_014317.4:c.117A>G	NP_055132.2:p.Glu39=
XM_024447922.1:c.117A>G	XP_024303690.1:p.Glu39=
XR_428636.4:n.405A>G
NM_014317.5:c.117A>G MANE Select	NP_055132.2:p.Glu39=
NM_001321978.2:c.117A>G	NP_001308907.1:p.Glu39=
NM_001321979.2:c.-477A>G	NP_001308908.1:n.-477A>G