Canonical Allele Identifier: CA5412486

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13298197G>A , CM000672.2:g.13298197G>A	GRCh38
NC_000010.10:g.13340197G>A , CM000672.1:g.13340197G>A	GRCh37
NC_000010.9:g.13380203G>A	NCBI36
NG_012862.1:g.6934C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.124C>T MANE Select	NP_006205.1:p.Gln42Ter
ENST00000263038.9:c.124C>T MANE Select	ENSP00000263038.4:p.Gln42Ter
NM_001037537.1:c.-167+1223C>T	NP_001032626.1:n.-167+1223C>T
NM_001037537.2:c.-167+1223C>T	NP_001032626.1:n.-167+1223C>T
NM_001323080.1:c.-177C>T	NP_001310009.1:n.-177C>T
NM_001323080.2:c.-177C>T	NP_001310009.1:n.-177C>T
NM_001323082.1:c.124C>T	NP_001310011.1:p.Gln42Ter
NM_001323082.2:c.124C>T	NP_001310011.1:p.Gln42Ter
NM_001323083.1:c.124C>T	NP_001310012.1:p.Gln42Ter
NM_001323083.2:c.124C>T	NP_001310012.1:p.Gln42Ter
NM_001323084.1:c.-167+1223C>T	NP_001310013.1:n.-167+1223C>T
NM_001323084.2:c.-167+1223C>T	NP_001310013.1:n.-167+1223C>T
NM_006214.3:c.124C>T	NP_006205.1:p.Gln42Ter
ENST00000263038.8:c.124C>T	ENSP00000263038.4:p.Gln42Ter
ENST00000396913.6:c.-167+1223C>T	ENSP00000380121.2:n.-167+1223C>T
ENST00000396920.7:c.67C>T	ENSP00000380126.3:p.Gln23Ter
ENST00000453759.6:c.-177C>T	ENSP00000412525.2:n.-177C>T
ENST00000463730.1:n.179C>T
ENST00000479604.1:c.124C>T	ENSP00000420117.1:p.Gln42Ter
XM_005252469.2:c.169C>T	XP_005252526.1:p.Gln57Ter