Canonical Allele Identifier: CA376035262

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288398T>A , CM000672.2:g.13288398T>A	GRCh38
NC_000010.10:g.13330398T>A , CM000672.1:g.13330398T>A	GRCh37
NC_000010.9:g.13370404T>A	NCBI36
NG_012862.1:g.16733A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.640A>T MANE Select	NP_006205.1:p.Lys214Ter
ENST00000263038.9:c.640A>T MANE Select	ENSP00000263038.4:p.Lys214Ter
NM_001037537.1:c.340A>T	NP_001032626.1:p.Lys114Ter
NM_001037537.2:c.340A>T	NP_001032626.1:p.Lys114Ter
NM_001323080.1:c.340A>T	NP_001310009.1:p.Lys114Ter
NM_001323080.2:c.340A>T	NP_001310009.1:p.Lys114Ter
NM_001323082.1:c.646A>T	NP_001310011.1:p.Lys216Ter
NM_001323082.2:c.646A>T	NP_001310011.1:p.Lys216Ter
NM_001323083.1:c.415-4559A>T	NP_001310012.1:n.415-4559A>T
NM_001323083.2:c.415-4559A>T	NP_001310012.1:n.415-4559A>T
NM_001323084.1:c.346A>T	NP_001310013.1:p.Lys116Ter
NM_001323084.2:c.346A>T	NP_001310013.1:p.Lys116Ter
NM_006214.3:c.640A>T	NP_006205.1:p.Lys214Ter
ENST00000263038.8:c.640A>T	ENSP00000263038.4:p.Lys214Ter
ENST00000396913.6:c.340A>T	ENSP00000380121.2:p.Lys114Ter
ENST00000396920.7:c.589A>T	ENSP00000380126.3:p.Lys197Ter
ENST00000453759.6:c.340A>T	ENSP00000412525.2:p.Lys114Ter
XM_005252469.2:c.460-4559A>T	XP_005252526.1:n.460-4559A>T