Canonical Allele Identifier: CA468236815
Gene: PHYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.13325708T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283708T>C , CM000672.2:g.13283708T>C GRCh38
NC_000010.10:g.13325708T>C , CM000672.1:g.13325708T>C GRCh37
NC_000010.9:g.13365714T>C NCBI36
NG_012862.1:g.21423A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263038.9:c.810A>G MANE Select ENSP00000263038.4:p.Lys270=
ENST00000263038.8:c.810A>G ENSP00000263038.4:p.Lys270=
ENST00000396913.6:c.510A>G ENSP00000380121.2:p.Lys170=
ENST00000396920.7:c.759A>G ENSP00000380126.3:p.Lys253=
ENST00000453759.6:c.510A>G ENSP00000412525.2:p.Lys170=
NM_001037537.1:c.510A>G NP_001032626.1:p.Lys170=
NM_006214.3:c.810A>G NP_006205.1:p.Lys270=
XM_005252469.2:c.591A>G XP_005252526.1:p.Lys197=
NM_001323080.1:c.510A>G NP_001310009.1:p.Lys170=
NM_001323082.1:c.816A>G NP_001310011.1:p.Lys272=
NM_001323083.1:c.546A>G NP_001310012.1:p.Lys182=
NM_001323084.1:c.516A>G NP_001310013.1:p.Lys172=
NM_006214.4:c.810A>G MANE Select NP_006205.1:p.Lys270=
NM_001037537.2:c.510A>G NP_001032626.1:p.Lys170=
NM_001323080.2:c.510A>G NP_001310009.1:p.Lys170=
NM_001323082.2:c.816A>G NP_001310011.1:p.Lys272=
NM_001323083.2:c.546A>G NP_001310012.1:p.Lys182=
NM_001323084.2:c.516A>G NP_001310013.1:p.Lys172=