Canonical Allele Identifier: CA376034133

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283734G>C , CM000672.2:g.13283734G>C	GRCh38
NC_000010.10:g.13325734G>C , CM000672.1:g.13325734G>C	GRCh37
NC_000010.9:g.13365740G>C	NCBI36
NG_012862.1:g.21397C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.784C>G MANE Select	NP_006205.1:p.Leu262Val
ENST00000263038.9:c.784C>G MANE Select	ENSP00000263038.4:p.Leu262Val
NM_001037537.1:c.484C>G	NP_001032626.1:p.Leu162Val
NM_001037537.2:c.484C>G	NP_001032626.1:p.Leu162Val
NM_001323080.1:c.484C>G	NP_001310009.1:p.Leu162Val
NM_001323080.2:c.484C>G	NP_001310009.1:p.Leu162Val
NM_001323082.1:c.790C>G	NP_001310011.1:p.Leu264Val
NM_001323082.2:c.790C>G	NP_001310011.1:p.Leu264Val
NM_001323083.1:c.520C>G	NP_001310012.1:p.Leu174Val
NM_001323083.2:c.520C>G	NP_001310012.1:p.Leu174Val
NM_001323084.1:c.490C>G	NP_001310013.1:p.Leu164Val
NM_001323084.2:c.490C>G	NP_001310013.1:p.Leu164Val
NM_006214.3:c.784C>G	NP_006205.1:p.Leu262Val
ENST00000263038.8:c.784C>G	ENSP00000263038.4:p.Leu262Val
ENST00000396913.6:c.484C>G	ENSP00000380121.2:p.Leu162Val
ENST00000396920.7:c.733C>G	ENSP00000380126.3:p.Leu245Val
ENST00000453759.6:c.484C>G	ENSP00000412525.2:p.Leu162Val
XM_005252469.2:c.565C>G	XP_005252526.1:p.Leu189Val