Canonical Allele Identifier: CA376034289

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325785G>C (hg19) ; chr10:g.13283785G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283785G>C , CM000672.2:g.13283785G>C	GRCh38
NC_000010.10:g.13325785G>C , CM000672.1:g.13325785G>C	GRCh37
NC_000010.9:g.13365791G>C	NCBI36
NG_012862.1:g.21346C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.733C>G MANE Select	ENSP00000263038.4:p.Arg245Gly
ENST00000263038.8:c.733C>G	ENSP00000263038.4:p.Arg245Gly
ENST00000396913.6:c.433C>G	ENSP00000380121.2:p.Arg145Gly
ENST00000396920.7:c.682C>G	ENSP00000380126.3:p.Arg228Gly
ENST00000453759.6:c.433C>G	ENSP00000412525.2:p.Arg145Gly
NM_001037537.1:c.433C>G	NP_001032626.1:p.Arg145Gly
NM_006214.3:c.733C>G	NP_006205.1:p.Arg245Gly
XM_005252469.2:c.514C>G	XP_005252526.1:p.Arg172Gly
NM_001323080.1:c.433C>G	NP_001310009.1:p.Arg145Gly
NM_001323082.1:c.739C>G	NP_001310011.1:p.Arg247Gly
NM_001323083.1:c.469C>G	NP_001310012.1:p.Arg157Gly
NM_001323084.1:c.439C>G	NP_001310013.1:p.Arg147Gly
NM_006214.4:c.733C>G MANE Select	NP_006205.1:p.Arg245Gly
NM_001037537.2:c.433C>G	NP_001032626.1:p.Arg145Gly
NM_001323080.2:c.433C>G	NP_001310009.1:p.Arg145Gly
NM_001323082.2:c.739C>G	NP_001310011.1:p.Arg247Gly
NM_001323083.2:c.469C>G	NP_001310012.1:p.Arg157Gly
NM_001323084.2:c.439C>G	NP_001310013.1:p.Arg147Gly