Canonical Allele Identifier: CA5412325

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288508T>C , CM000672.2:g.13288508T>C	GRCh38
NC_000010.10:g.13330508T>C , CM000672.1:g.13330508T>C	GRCh37
NC_000010.9:g.13370514T>C	NCBI36
NG_012862.1:g.16623A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.530A>G MANE Select	NP_006205.1:p.Asp177Gly
ENST00000263038.9:c.530A>G MANE Select	ENSP00000263038.4:p.Asp177Gly
NM_001037537.1:c.230A>G	NP_001032626.1:p.Asp77Gly
NM_001037537.2:c.230A>G	NP_001032626.1:p.Asp77Gly
NM_001323080.1:c.230A>G	NP_001310009.1:p.Asp77Gly
NM_001323080.2:c.230A>G	NP_001310009.1:p.Asp77Gly
NM_001323082.1:c.536A>G	NP_001310011.1:p.Asp179Gly
NM_001323082.2:c.536A>G	NP_001310011.1:p.Asp179Gly
NM_001323083.1:c.415-4669A>G	NP_001310012.1:n.415-4669A>G
NM_001323083.2:c.415-4669A>G	NP_001310012.1:n.415-4669A>G
NM_001323084.1:c.236A>G	NP_001310013.1:p.Asp79Gly
NM_001323084.2:c.236A>G	NP_001310013.1:p.Asp79Gly
NM_006214.3:c.530A>G	NP_006205.1:p.Asp177Gly
ENST00000263038.8:c.530A>G	ENSP00000263038.4:p.Asp177Gly
ENST00000396913.6:c.230A>G	ENSP00000380121.2:p.Asp77Gly
ENST00000396920.7:c.479A>G	ENSP00000380126.3:p.Asp160Gly
ENST00000453759.6:c.230A>G	ENSP00000412525.2:p.Asp77Gly
ENST00000479604.1:c.536A>G	ENSP00000420117.1:p.Asp179Gly
XM_005252469.2:c.460-4669A>G	XP_005252526.1:n.460-4669A>G