Canonical Allele Identifier: CA5412200

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13280991A>G , CM000672.2:g.13280991A>G	GRCh38
NC_000010.10:g.13322991A>G , CM000672.1:g.13322991A>G	GRCh37
NC_000010.9:g.13362997A>G	NCBI36
NG_012862.1:g.24140T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.948T>C MANE Select	NP_006205.1:p.Asn316=
ENST00000263038.9:c.948T>C MANE Select	ENSP00000263038.4:p.Asn316=
NM_001037537.1:c.648T>C	NP_001032626.1:p.Asn216=
NM_001037537.2:c.648T>C	NP_001032626.1:p.Asn216=
NM_001323080.1:c.648T>C	NP_001310009.1:p.Asn216=
NM_001323080.2:c.648T>C	NP_001310009.1:p.Asn216=
NM_001323082.1:c.954T>C	NP_001310011.1:p.Asn318=
NM_001323082.2:c.954T>C	NP_001310011.1:p.Asn318=
NM_001323083.1:c.684T>C	NP_001310012.1:p.Asn228=
NM_001323083.2:c.684T>C	NP_001310012.1:p.Asn228=
NM_001323084.1:c.654T>C	NP_001310013.1:p.Asn218=
NM_001323084.2:c.654T>C	NP_001310013.1:p.Asn218=
NM_006214.3:c.948T>C	NP_006205.1:p.Asn316=
ENST00000263038.8:c.948T>C	ENSP00000263038.4:p.Asn316=
ENST00000396913.6:c.648T>C	ENSP00000380121.2:p.Asn216=
ENST00000396920.7:c.897T>C	ENSP00000380126.3:p.Asn299=
XM_005252469.2:c.729T>C	XP_005252526.1:p.Asn243=