Canonical Allele Identifier: CA10635522
Gene: PDSS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 299693
ClinVar RCV Id: RCV000336100
dbSNP Id: rs886046933

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26697808G>A , CM000672.2:g.26697808G>A GRCh38
NC_000010.10:g.26986737G>A , CM000672.1:g.26986737G>A GRCh37
NC_000010.9:g.27026743G>A NCBI36
NG_008972.1:g.5143G>A
NG_008972.2:g.5143G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376215.10:c.97G>A MANE Select ENSP00000365388.5:p.Gly33Arg
ENST00000376215.9:c.97G>A ENSP00000365388.5:p.Gly33Arg
NM_014317.3:c.97G>A NP_055132.2:p.Gly33Arg
XR_428636.2:n.385G>A
XR_930486.1:n.385G>A
NM_001321978.1:c.97G>A NP_001308907.1:p.Gly33Arg
NM_001321979.1:c.-497G>A NP_001308908.1:n.-497G>A
NM_014317.4:c.97G>A NP_055132.2:p.Gly33Arg
XM_024447922.1:c.97G>A XP_024303690.1:p.Gly33Arg
XR_428636.4:n.385G>A
NM_014317.5:c.97G>A MANE Select NP_055132.2:p.Gly33Arg
NM_001321978.2:c.97G>A NP_001308907.1:p.Gly33Arg
NM_001321979.2:c.-497G>A NP_001308908.1:n.-497G>A