Canonical Allele Identifier: CA468624778
Gene: PDSS1 HGNC NCBI

Linked Data

dbSNP Id: rs1834908028
MyVariant Identifiers: chr10:g.26986661G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26697732G>T , CM000672.2:g.26697732G>T GRCh38
NC_000010.10:g.26986661G>T , CM000672.1:g.26986661G>T GRCh37
NC_000010.9:g.27026667G>T NCBI36
NG_008972.1:g.5067G>T
NG_008972.2:g.5067G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376215.10:c.21G>T MANE Select ENSP00000365388.5:p.Arg7=
ENST00000376215.9:c.21G>T ENSP00000365388.5:p.Arg7=
NM_014317.3:c.21G>T NP_055132.2:p.Arg7=
XR_428636.2:n.309G>T
XR_930486.1:n.309G>T
NM_001321978.1:c.21G>T NP_001308907.1:p.Arg7=
NM_001321979.1:c.-573G>T NP_001308908.1:n.-573G>T
NM_014317.4:c.21G>T NP_055132.2:p.Arg7=
XM_024447922.1:c.21G>T XP_024303690.1:p.Arg7=
XR_428636.4:n.309G>T
NM_014317.5:c.21G>T MANE Select NP_055132.2:p.Arg7=
NM_001321978.2:c.21G>T NP_001308907.1:p.Arg7=
NM_001321979.2:c.-573G>T NP_001308908.1:n.-573G>T