Canonical Allele Identifier: CA376035137

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288364C>T , CM000672.2:g.13288364C>T	GRCh38
NC_000010.10:g.13330364C>T , CM000672.1:g.13330364C>T	GRCh37
NC_000010.9:g.13370370C>T	NCBI36
NG_012862.1:g.16767G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.674G>A MANE Select	NP_006205.1:p.Trp225Ter
ENST00000263038.9:c.674G>A MANE Select	ENSP00000263038.4:p.Trp225Ter
NM_001037537.1:c.374G>A	NP_001032626.1:p.Trp125Ter
NM_001037537.2:c.374G>A	NP_001032626.1:p.Trp125Ter
NM_001323080.1:c.374G>A	NP_001310009.1:p.Trp125Ter
NM_001323080.2:c.374G>A	NP_001310009.1:p.Trp125Ter
NM_001323082.1:c.680G>A	NP_001310011.1:p.Trp227Ter
NM_001323082.2:c.680G>A	NP_001310011.1:p.Trp227Ter
NM_001323083.1:c.415-4525G>A	NP_001310012.1:n.415-4525G>A
NM_001323083.2:c.415-4525G>A	NP_001310012.1:n.415-4525G>A
NM_001323084.1:c.380G>A	NP_001310013.1:p.Trp127Ter
NM_001323084.2:c.380G>A	NP_001310013.1:p.Trp127Ter
NM_006214.3:c.674G>A	NP_006205.1:p.Trp225Ter
ENST00000263038.8:c.674G>A	ENSP00000263038.4:p.Trp225Ter
ENST00000396913.6:c.374G>A	ENSP00000380121.2:p.Trp125Ter
ENST00000396920.7:c.623G>A	ENSP00000380126.3:p.Trp208Ter
ENST00000453759.6:c.374G>A	ENSP00000412525.2:p.Trp125Ter
XM_005252469.2:c.460-4525G>A	XP_005252526.1:n.460-4525G>A