Canonical Allele Identifier: CA376034122
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283729G>C , CM000672.2:g.13283729G>C GRCh38
NC_000010.10:g.13325729G>C , CM000672.1:g.13325729G>C GRCh37
NC_000010.9:g.13365735G>C NCBI36
NG_012862.1:g.21402C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.789C>G MANE Select ENSP00000263038.4:p.Ile263Met
ENST00000263038.8:c.789C>G ENSP00000263038.4:p.Ile263Met
ENST00000396913.6:c.489C>G ENSP00000380121.2:p.Ile163Met
ENST00000396920.7:c.738C>G ENSP00000380126.3:p.Ile246Met
ENST00000453759.6:c.489C>G ENSP00000412525.2:p.Ile163Met
NM_001037537.1:c.489C>G NP_001032626.1:p.Ile163Met
NM_006214.3:c.789C>G NP_006205.1:p.Ile263Met
XM_005252469.2:c.570C>G XP_005252526.1:p.Ile190Met
NM_001323080.1:c.489C>G NP_001310009.1:p.Ile163Met
NM_001323082.1:c.795C>G NP_001310011.1:p.Ile265Met
NM_001323083.1:c.525C>G NP_001310012.1:p.Ile175Met
NM_001323084.1:c.495C>G NP_001310013.1:p.Ile165Met
NM_006214.4:c.789C>G MANE Select NP_006205.1:p.Ile263Met
NM_001037537.2:c.489C>G NP_001032626.1:p.Ile163Met
NM_001323080.2:c.489C>G NP_001310009.1:p.Ile163Met
NM_001323082.2:c.795C>G NP_001310011.1:p.Ile265Met
NM_001323083.2:c.525C>G NP_001310012.1:p.Ile175Met
NM_001323084.2:c.495C>G NP_001310013.1:p.Ile165Met