Canonical Allele Identifier: CA1898170393
Gene: PDSS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26697834C= , CM000672.2:g.26697834C= GRCh38
NC_000010.10:g.26986763C= , CM000672.1:g.26986763C= GRCh37
NC_000010.9:g.27026769C= NCBI36
NG_008972.1:g.5169C=
NG_008972.2:g.5169C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376215.10:c.123C= MANE Select ENSP00000365388.5:p.Arg41=
ENST00000376215.9:c.123C= ENSP00000365388.5:p.Arg41=
NM_014317.3:c.123C= NP_055132.2:p.Arg41=
XR_428636.2:n.411C=
XR_930486.1:n.411C=
NM_001321978.1:c.123C= NP_001308907.1:p.Arg41=
NM_001321979.1:c.-471C= NP_001308908.1:n.-471C=
NM_014317.4:c.123C= NP_055132.2:p.Arg41=
XM_024447922.1:c.123C= XP_024303690.1:p.Arg41=
XR_428636.4:n.411C=
NM_014317.5:c.123C= MANE Select NP_055132.2:p.Arg41=
NM_001321978.2:c.123C= NP_001308907.1:p.Arg41=
NM_001321979.2:c.-471C= NP_001308908.1:n.-471C=