Canonical Allele Identifier: CA3181751545
Community Standard Title: NM_006214.4(PHYH):c.783G= (p.Leu261=)
Gene: PHYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283735C= , CM000672.2:g.13283735C= GRCh38
NC_000010.10:g.13325735C= , CM000672.1:g.13325735C= GRCh37
NC_000010.9:g.13365741C= NCBI36
NG_012862.1:g.21396G=

Transcript Alleles

HGVS Amino-acid Change
NM_006214.4:c.783G= MANE Select NP_006205.1:p.Leu261=
ENST00000263038.9:c.783G= MANE Select ENSP00000263038.4:p.Leu261=
NM_001037537.1:c.483G= NP_001032626.1:p.Leu161=
NM_001037537.2:c.483G= NP_001032626.1:p.Leu161=
NM_001323080.1:c.483G= NP_001310009.1:p.Leu161=
NM_001323080.2:c.483G= NP_001310009.1:p.Leu161=
NM_001323082.1:c.789G= NP_001310011.1:p.Leu263=
NM_001323082.2:c.789G= NP_001310011.1:p.Leu263=
NM_001323083.1:c.519G= NP_001310012.1:p.Leu173=
NM_001323083.2:c.519G= NP_001310012.1:p.Leu173=
NM_001323084.1:c.489G= NP_001310013.1:p.Leu163=
NM_001323084.2:c.489G= NP_001310013.1:p.Leu163=
NM_006214.3:c.783G= NP_006205.1:p.Leu261=
ENST00000263038.8:c.783G= ENSP00000263038.4:p.Leu261=
ENST00000396913.6:c.483G= ENSP00000380121.2:p.Leu161=
ENST00000396920.7:c.732G= ENSP00000380126.3:p.Leu244=
ENST00000453759.6:c.483G= ENSP00000412525.2:p.Leu161=
XM_005252469.2:c.564G= XP_005252526.1:p.Leu188=