Canonical Allele Identifier: CA5412282

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288358A>G , CM000672.2:g.13288358A>G	GRCh38
NC_000010.10:g.13330358A>G , CM000672.1:g.13330358A>G	GRCh37
NC_000010.9:g.13370364A>G	NCBI36
NG_012862.1:g.16773T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.678+2T>C MANE Select	NP_006205.1:n.678+2T>C
ENST00000263038.9:c.678+2T>C MANE Select	ENSP00000263038.4:n.678+2T>C
NM_001037537.1:c.378+2T>C	NP_001032626.1:n.378+2T>C
NM_001037537.2:c.378+2T>C	NP_001032626.1:n.378+2T>C
NM_001323080.1:c.378+2T>C	NP_001310009.1:n.378+2T>C
NM_001323080.2:c.378+2T>C	NP_001310009.1:n.378+2T>C
NM_001323082.1:c.684+2T>C	NP_001310011.1:n.684+2T>C
NM_001323082.2:c.684+2T>C	NP_001310011.1:n.684+2T>C
NM_001323083.1:c.415-4519T>C	NP_001310012.1:n.415-4519T>C
NM_001323083.2:c.415-4519T>C	NP_001310012.1:n.415-4519T>C
NM_001323084.1:c.384+2T>C	NP_001310013.1:n.384+2T>C
NM_001323084.2:c.384+2T>C	NP_001310013.1:n.384+2T>C
NM_006214.3:c.678+2T>C	NP_006205.1:n.678+2T>C
ENST00000263038.8:c.678+2T>C	ENSP00000263038.4:n.678+2T>C
ENST00000396913.6:c.378+2T>C	ENSP00000380121.2:n.378+2T>C
ENST00000396920.7:c.627+2T>C	ENSP00000380126.3:n.627+2T>C
ENST00000453759.6:c.378+2T>C	ENSP00000412525.2:n.378+2T>C
XM_005252469.2:c.460-4519T>C	XP_005252526.1:n.460-4519T>C