Canonical Allele Identifier: CA5412330

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288542C>T , CM000672.2:g.13288542C>T	GRCh38
NC_000010.10:g.13330542C>T , CM000672.1:g.13330542C>T	GRCh37
NC_000010.9:g.13370548C>T	NCBI36
NG_012862.1:g.16589G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.497-1G>A MANE Select	NP_006205.1:n.497-1G>A
ENST00000263038.9:c.497-1G>A MANE Select	ENSP00000263038.4:n.497-1G>A
NM_001037537.1:c.197-1G>A	NP_001032626.1:n.197-1G>A
NM_001037537.2:c.197-1G>A	NP_001032626.1:n.197-1G>A
NM_001323080.1:c.197-1G>A	NP_001310009.1:n.197-1G>A
NM_001323080.2:c.197-1G>A	NP_001310009.1:n.197-1G>A
NM_001323082.1:c.503-1G>A	NP_001310011.1:n.503-1G>A
NM_001323082.2:c.503-1G>A	NP_001310011.1:n.503-1G>A
NM_001323083.1:c.415-4703G>A	NP_001310012.1:n.415-4703G>A
NM_001323083.2:c.415-4703G>A	NP_001310012.1:n.415-4703G>A
NM_001323084.1:c.203-1G>A	NP_001310013.1:n.203-1G>A
NM_001323084.2:c.203-1G>A	NP_001310013.1:n.203-1G>A
NM_006214.3:c.497-1G>A	NP_006205.1:n.497-1G>A
ENST00000263038.8:c.497-1G>A	ENSP00000263038.4:n.497-1G>A
ENST00000396913.6:c.197-1G>A	ENSP00000380121.2:n.197-1G>A
ENST00000396920.7:c.446-1G>A	ENSP00000380126.3:n.446-1G>A
ENST00000453759.6:c.197-1G>A	ENSP00000412525.2:n.197-1G>A
ENST00000479604.1:c.503-1G>A	ENSP00000420117.1:n.503-1G>A
XM_005252469.2:c.460-4703G>A	XP_005252526.1:n.460-4703G>A