Canonical Allele Identifier: CA468237107
Gene: PHYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.13325795T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283795T>C , CM000672.2:g.13283795T>C GRCh38
NC_000010.10:g.13325795T>C , CM000672.1:g.13325795T>C GRCh37
NC_000010.9:g.13365801T>C NCBI36
NG_012862.1:g.21336A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.723A>G MANE Select ENSP00000263038.4:p.Glu241=
ENST00000263038.8:c.723A>G ENSP00000263038.4:p.Glu241=
ENST00000396913.6:c.423A>G ENSP00000380121.2:p.Glu141=
ENST00000396920.7:c.672A>G ENSP00000380126.3:p.Glu224=
ENST00000453759.6:c.423A>G ENSP00000412525.2:p.Glu141=
NM_001037537.1:c.423A>G NP_001032626.1:p.Glu141=
NM_006214.3:c.723A>G NP_006205.1:p.Glu241=
XM_005252469.2:c.504A>G XP_005252526.1:p.Glu168=
NM_001323080.1:c.423A>G NP_001310009.1:p.Glu141=
NM_001323082.1:c.729A>G NP_001310011.1:p.Glu243=
NM_001323083.1:c.459A>G NP_001310012.1:p.Glu153=
NM_001323084.1:c.429A>G NP_001310013.1:p.Glu143=
NM_006214.4:c.723A>G MANE Select NP_006205.1:p.Glu241=
NM_001037537.2:c.423A>G NP_001032626.1:p.Glu141=
NM_001323080.2:c.423A>G NP_001310009.1:p.Glu141=
NM_001323082.2:c.729A>G NP_001310011.1:p.Glu243=
NM_001323083.2:c.459A>G NP_001310012.1:p.Glu153=
NM_001323084.2:c.429A>G NP_001310013.1:p.Glu143=