Canonical Allele Identifier: CA376034311
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283791T>A , CM000672.2:g.13283791T>A GRCh38
NC_000010.10:g.13325791T>A , CM000672.1:g.13325791T>A GRCh37
NC_000010.9:g.13365797T>A NCBI36
NG_012862.1:g.21340A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.727A>T MANE Select ENSP00000263038.4:p.Lys243Ter
ENST00000263038.8:c.727A>T ENSP00000263038.4:p.Lys243Ter
ENST00000396913.6:c.427A>T ENSP00000380121.2:p.Lys143Ter
ENST00000396920.7:c.676A>T ENSP00000380126.3:p.Lys226Ter
ENST00000453759.6:c.427A>T ENSP00000412525.2:p.Lys143Ter
NM_001037537.1:c.427A>T NP_001032626.1:p.Lys143Ter
NM_006214.3:c.727A>T NP_006205.1:p.Lys243Ter
XM_005252469.2:c.508A>T XP_005252526.1:p.Lys170Ter
NM_001323080.1:c.427A>T NP_001310009.1:p.Lys143Ter
NM_001323082.1:c.733A>T NP_001310011.1:p.Lys245Ter
NM_001323083.1:c.463A>T NP_001310012.1:p.Lys155Ter
NM_001323084.1:c.433A>T NP_001310013.1:p.Lys145Ter
NM_006214.4:c.727A>T MANE Select NP_006205.1:p.Lys243Ter
NM_001037537.2:c.427A>T NP_001032626.1:p.Lys143Ter
NM_001323080.2:c.427A>T NP_001310009.1:p.Lys143Ter
NM_001323082.2:c.733A>T NP_001310011.1:p.Lys245Ter
NM_001323083.2:c.463A>T NP_001310012.1:p.Lys155Ter
NM_001323084.2:c.433A>T NP_001310013.1:p.Lys145Ter