Canonical Allele Identifier: CA468237079
Gene: PHYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.13325786G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283786G>C , CM000672.2:g.13283786G>C GRCh38
NC_000010.10:g.13325786G>C , CM000672.1:g.13325786G>C GRCh37
NC_000010.9:g.13365792G>C NCBI36
NG_012862.1:g.21345C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.732C>G MANE Select ENSP00000263038.4:p.Ala244=
ENST00000263038.8:c.732C>G ENSP00000263038.4:p.Ala244=
ENST00000396913.6:c.432C>G ENSP00000380121.2:p.Ala144=
ENST00000396920.7:c.681C>G ENSP00000380126.3:p.Ala227=
ENST00000453759.6:c.432C>G ENSP00000412525.2:p.Ala144=
NM_001037537.1:c.432C>G NP_001032626.1:p.Ala144=
NM_006214.3:c.732C>G NP_006205.1:p.Ala244=
XM_005252469.2:c.513C>G XP_005252526.1:p.Ala171=
NM_001323080.1:c.432C>G NP_001310009.1:p.Ala144=
NM_001323082.1:c.738C>G NP_001310011.1:p.Ala246=
NM_001323083.1:c.468C>G NP_001310012.1:p.Ala156=
NM_001323084.1:c.438C>G NP_001310013.1:p.Ala146=
NM_006214.4:c.732C>G MANE Select NP_006205.1:p.Ala244=
NM_001037537.2:c.432C>G NP_001032626.1:p.Ala144=
NM_001323080.2:c.432C>G NP_001310009.1:p.Ala144=
NM_001323082.2:c.738C>G NP_001310011.1:p.Ala246=
NM_001323083.2:c.468C>G NP_001310012.1:p.Ala156=
NM_001323084.2:c.438C>G NP_001310013.1:p.Ala146=