Canonical Allele Identifier: CA1898170575
Gene: PDSS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26697915G= , CM000672.2:g.26697915G= GRCh38
NC_000010.10:g.26986844G= , CM000672.1:g.26986844G= GRCh37
NC_000010.9:g.27026850G= NCBI36
NG_008972.1:g.5250G=
NG_008972.2:g.5250G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376215.10:c.129+75G= MANE Select ENSP00000365388.5:n.129+75G=
ENST00000376215.9:c.129+75G= ENSP00000365388.5:n.129+75G=
NM_014317.3:c.129+75G= NP_055132.2:n.129+75G=
XR_428636.2:n.417+75G=
XR_930486.1:n.417+75G=
NM_001321978.1:c.129+75G= NP_001308907.1:n.129+75G=
NM_001321979.1:c.-465+75G= NP_001308908.1:n.-465+75G=
NM_014317.4:c.129+75G= NP_055132.2:n.129+75G=
XM_024447922.1:c.129+75G= XP_024303690.1:n.129+75G=
XR_428636.4:n.417+75G=
NM_014317.5:c.129+75G= MANE Select NP_055132.2:n.129+75G=
NM_001321978.2:c.129+75G= NP_001308907.1:n.129+75G=
NM_001321979.2:c.-465+75G= NP_001308908.1:n.-465+75G=