Canonical Allele Identifier: CA5412260

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283839C>A , CM000672.2:g.13283839C>A	GRCh38
NC_000010.10:g.13325839C>A , CM000672.1:g.13325839C>A	GRCh37
NC_000010.9:g.13365845C>A	NCBI36
NG_012862.1:g.21292G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.679G>T MANE Select	NP_006205.1:p.Gly227Trp
ENST00000263038.9:c.679G>T MANE Select	ENSP00000263038.4:p.Gly227Trp
NM_001037537.1:c.379G>T	NP_001032626.1:p.Gly127Trp
NM_001037537.2:c.379G>T	NP_001032626.1:p.Gly127Trp
NM_001323080.1:c.379G>T	NP_001310009.1:p.Gly127Trp
NM_001323080.2:c.379G>T	NP_001310009.1:p.Gly127Trp
NM_001323082.1:c.685G>T	NP_001310011.1:p.Gly229Trp
NM_001323082.2:c.685G>T	NP_001310011.1:p.Gly229Trp
NM_001323083.1:c.415G>T	NP_001310012.1:p.Gly139Trp
NM_001323083.2:c.415G>T	NP_001310012.1:p.Gly139Trp
NM_001323084.1:c.385G>T	NP_001310013.1:p.Gly129Trp
NM_001323084.2:c.385G>T	NP_001310013.1:p.Gly129Trp
NM_006214.3:c.679G>T	NP_006205.1:p.Gly227Trp
ENST00000263038.8:c.679G>T	ENSP00000263038.4:p.Gly227Trp
ENST00000396913.6:c.379G>T	ENSP00000380121.2:p.Gly127Trp
ENST00000396920.7:c.628G>T	ENSP00000380126.3:p.Gly210Trp
ENST00000453759.6:c.379G>T	ENSP00000412525.2:p.Gly127Trp
XM_005252469.2:c.460G>T	XP_005252526.1:p.Gly154Trp