Canonical Allele Identifier: CA468237221
Gene: PHYH HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.13325834T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283834T>G , CM000672.2:g.13283834T>G GRCh38
NC_000010.10:g.13325834T>G , CM000672.1:g.13325834T>G GRCh37
NC_000010.9:g.13365840T>G NCBI36
NG_012862.1:g.21297A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.684A>C MANE Select ENSP00000263038.4:p.Gly228=
ENST00000263038.8:c.684A>C ENSP00000263038.4:p.Gly228=
ENST00000396913.6:c.384A>C ENSP00000380121.2:p.Gly128=
ENST00000396920.7:c.633A>C ENSP00000380126.3:p.Gly211=
ENST00000453759.6:c.384A>C ENSP00000412525.2:p.Gly128=
NM_001037537.1:c.384A>C NP_001032626.1:p.Gly128=
NM_006214.3:c.684A>C NP_006205.1:p.Gly228=
XM_005252469.2:c.465A>C XP_005252526.1:p.Gly155=
NM_001323080.1:c.384A>C NP_001310009.1:p.Gly128=
NM_001323082.1:c.690A>C NP_001310011.1:p.Gly230=
NM_001323083.1:c.420A>C NP_001310012.1:p.Gly140=
NM_001323084.1:c.390A>C NP_001310013.1:p.Gly130=
NM_006214.4:c.684A>C MANE Select NP_006205.1:p.Gly228=
NM_001037537.2:c.384A>C NP_001032626.1:p.Gly128=
NM_001323080.2:c.384A>C NP_001310009.1:p.Gly128=
NM_001323082.2:c.690A>C NP_001310011.1:p.Gly230=
NM_001323083.2:c.420A>C NP_001310012.1:p.Gly140=
NM_001323084.2:c.390A>C NP_001310013.1:p.Gly130=