Canonical Allele Identifier: CA376034144
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283740G>A , CM000672.2:g.13283740G>A GRCh38
NC_000010.10:g.13325740G>A , CM000672.1:g.13325740G>A GRCh37
NC_000010.9:g.13365746G>A NCBI36
NG_012862.1:g.21391C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.778C>T MANE Select ENSP00000263038.4:p.Pro260Ser
ENST00000263038.8:c.778C>T ENSP00000263038.4:p.Pro260Ser
ENST00000396913.6:c.478C>T ENSP00000380121.2:p.Pro160Ser
ENST00000396920.7:c.727C>T ENSP00000380126.3:p.Pro243Ser
ENST00000453759.6:c.478C>T ENSP00000412525.2:p.Pro160Ser
NM_001037537.1:c.478C>T NP_001032626.1:p.Pro160Ser
NM_006214.3:c.778C>T NP_006205.1:p.Pro260Ser
XM_005252469.2:c.559C>T XP_005252526.1:p.Pro187Ser
NM_001323080.1:c.478C>T NP_001310009.1:p.Pro160Ser
NM_001323082.1:c.784C>T NP_001310011.1:p.Pro262Ser
NM_001323083.1:c.514C>T NP_001310012.1:p.Pro172Ser
NM_001323084.1:c.484C>T NP_001310013.1:p.Pro162Ser
NM_006214.4:c.778C>T MANE Select NP_006205.1:p.Pro260Ser
NM_001037537.2:c.478C>T NP_001032626.1:p.Pro160Ser
NM_001323080.2:c.478C>T NP_001310009.1:p.Pro160Ser
NM_001323082.2:c.784C>T NP_001310011.1:p.Pro262Ser
NM_001323083.2:c.514C>T NP_001310012.1:p.Pro172Ser
NM_001323084.2:c.484C>T NP_001310013.1:p.Pro162Ser