Canonical Allele Identifier: CA1898185324
Gene: PDSS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26709824C= , CM000672.2:g.26709824C= GRCh38
NC_000010.10:g.26998753C= , CM000672.1:g.26998753C= GRCh37
NC_000010.9:g.27038759C= NCBI36
NG_008972.1:g.17159C=
NG_008972.2:g.17159C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376215.10:c.467+56C= MANE Select ENSP00000365388.5:n.467+56C=
ENST00000376215.9:c.467+56C= ENSP00000365388.5:n.467+56C=
ENST00000473224.1:n.218+56C=
NM_014317.3:c.467+56C= NP_055132.2:n.467+56C=
XM_005252439.2:c.-127+56C= XP_005252496.1:n.-127+56C=
XM_011519437.1:c.98+56C= XP_011517739.1:n.98+56C=
XR_428636.2:n.755+56C=
XR_930486.1:n.755+56C=
NM_001321978.1:c.467+56C= NP_001308907.1:n.467+56C=
NM_001321979.1:c.-127+56C= NP_001308908.1:n.-127+56C=
NM_014317.4:c.467+56C= NP_055132.2:n.467+56C=
XM_011519437.3:c.98+56C= XP_011517739.1:n.98+56C=
XM_017016011.2:c.146+56C= XP_016871500.1:n.146+56C=
XM_024447922.1:c.467+56C= XP_024303690.1:n.467+56C=
XM_024447923.1:c.-127+56C= XP_024303691.1:n.-127+56C=
XR_428636.4:n.755+56C=
NM_014317.5:c.467+56C= MANE Select NP_055132.2:n.467+56C=
NM_001321978.2:c.467+56C= NP_001308907.1:n.467+56C=
NM_001321979.2:c.-127+56C= NP_001308908.1:n.-127+56C=