Canonical Allele Identifier: CA1891546538
Gene: PHYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283782C= , CM000672.2:g.13283782C= GRCh38
NC_000010.10:g.13325782C= , CM000672.1:g.13325782C= GRCh37
NC_000010.9:g.13365788C= NCBI36
NG_012862.1:g.21349G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.736G= MANE Select ENSP00000263038.4:p.Val246=
ENST00000263038.8:c.736G= ENSP00000263038.4:p.Val246=
ENST00000396913.6:c.436G= ENSP00000380121.2:p.Val146=
ENST00000396920.7:c.685G= ENSP00000380126.3:p.Val229=
ENST00000453759.6:c.436G= ENSP00000412525.2:p.Val146=
NM_001037537.1:c.436G= NP_001032626.1:p.Val146=
NM_006214.3:c.736G= NP_006205.1:p.Val246=
XM_005252469.2:c.517G= XP_005252526.1:p.Val173=
NM_001323080.1:c.436G= NP_001310009.1:p.Val146=
NM_001323082.1:c.742G= NP_001310011.1:p.Val248=
NM_001323083.1:c.472G= NP_001310012.1:p.Val158=
NM_001323084.1:c.442G= NP_001310013.1:p.Val148=
NM_006214.4:c.736G= MANE Select NP_006205.1:p.Val246=
NM_001037537.2:c.436G= NP_001032626.1:p.Val146=
NM_001323080.2:c.436G= NP_001310009.1:p.Val146=
NM_001323082.2:c.742G= NP_001310011.1:p.Val248=
NM_001323083.2:c.472G= NP_001310012.1:p.Val158=
NM_001323084.2:c.442G= NP_001310013.1:p.Val148=