Canonical Allele Identifier: CA1891517048
Gene: PHYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283315G= , CM000672.2:g.13283315G= GRCh38
NC_000010.10:g.13325315G= , CM000672.1:g.13325315G= GRCh37
NC_000010.9:g.13365321G= NCBI36
NG_012862.1:g.21816C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.828+375C= MANE Select ENSP00000263038.4:n.828+375C=
ENST00000263038.8:c.828+375C= ENSP00000263038.4:n.828+375C=
ENST00000396913.6:c.528+375C= ENSP00000380121.2:n.528+375C=
ENST00000396920.7:c.777+375C= ENSP00000380126.3:n.777+375C=
NM_001037537.1:c.528+375C= NP_001032626.1:n.528+375C=
NM_006214.3:c.828+375C= NP_006205.1:n.828+375C=
XM_005252469.2:c.609+375C= XP_005252526.1:n.609+375C=
NM_001323080.1:c.528+375C= NP_001310009.1:n.528+375C=
NM_001323082.1:c.834+375C= NP_001310011.1:n.834+375C=
NM_001323083.1:c.564+375C= NP_001310012.1:n.564+375C=
NM_001323084.1:c.534+375C= NP_001310013.1:n.534+375C=
NM_006214.4:c.828+375C= MANE Select NP_006205.1:n.828+375C=
NM_001037537.2:c.528+375C= NP_001032626.1:n.528+375C=
NM_001323080.2:c.528+375C= NP_001310009.1:n.528+375C=
NM_001323082.2:c.834+375C= NP_001310011.1:n.834+375C=
NM_001323083.2:c.564+375C= NP_001310012.1:n.564+375C=
NM_001323084.2:c.534+375C= NP_001310013.1:n.534+375C=