Canonical Allele Identifier: CA376488955

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 1033284
• ClinVar RCV Id: RCV001335652
• dbSNP Id: rs1834912984
• MyVariant Identifiers: chr10:g.26986734T>A (hg19) ; chr10:g.26697805T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697805T>A , CM000672.2:g.26697805T>A	GRCh38
NC_000010.10:g.26986734T>A , CM000672.1:g.26986734T>A	GRCh37
NC_000010.9:g.27026740T>A	NCBI36
NG_008972.1:g.5140T>A
NG_008972.2:g.5140T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.94T>A MANE Select	ENSP00000365388.5:p.Leu32Met
ENST00000376215.9:c.94T>A	ENSP00000365388.5:p.Leu32Met
NM_014317.3:c.94T>A	NP_055132.2:p.Leu32Met
XR_428636.2:n.382T>A
XR_930486.1:n.382T>A
NM_001321978.1:c.94T>A	NP_001308907.1:p.Leu32Met
NM_001321979.1:c.-500T>A	NP_001308908.1:n.-500T>A
NM_014317.4:c.94T>A	NP_055132.2:p.Leu32Met
XM_024447922.1:c.94T>A	XP_024303690.1:p.Leu32Met
XR_428636.4:n.382T>A
NM_014317.5:c.94T>A MANE Select	NP_055132.2:p.Leu32Met
NM_001321978.2:c.94T>A	NP_001308907.1:p.Leu32Met
NM_001321979.2:c.-500T>A	NP_001308908.1:n.-500T>A