Canonical Allele Identifier: CA376034054

Gene: PHYH

Linked Data

• dbSNP Id: rs1835472559
• gnomAD v4: 10-13283698-A-G
• MyVariant Identifiers: chr10:g.13325698A>G (hg19) ; chr10:g.13283698A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283698A>G , CM000672.2:g.13283698A>G	GRCh38
NC_000010.10:g.13325698A>G , CM000672.1:g.13325698A>G	GRCh37
NC_000010.9:g.13365704A>G	NCBI36
NG_012862.1:g.21433T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.820T>C MANE Select	ENSP00000263038.4:p.Phe274Leu
ENST00000263038.8:c.820T>C	ENSP00000263038.4:p.Phe274Leu
ENST00000396913.6:c.520T>C	ENSP00000380121.2:p.Phe174Leu
ENST00000396920.7:c.769T>C	ENSP00000380126.3:p.Phe257Leu
ENST00000453759.6:c.520T>C	ENSP00000412525.2:p.Phe174Leu
NM_001037537.1:c.520T>C	NP_001032626.1:p.Phe174Leu
NM_006214.3:c.820T>C	NP_006205.1:p.Phe274Leu
XM_005252469.2:c.601T>C	XP_005252526.1:p.Phe201Leu
NM_001323080.1:c.520T>C	NP_001310009.1:p.Phe174Leu
NM_001323082.1:c.826T>C	NP_001310011.1:p.Phe276Leu
NM_001323083.1:c.556T>C	NP_001310012.1:p.Phe186Leu
NM_001323084.1:c.526T>C	NP_001310013.1:p.Phe176Leu
NM_006214.4:c.820T>C MANE Select	NP_006205.1:p.Phe274Leu
NM_001037537.2:c.520T>C	NP_001032626.1:p.Phe174Leu
NM_001323080.2:c.520T>C	NP_001310009.1:p.Phe174Leu
NM_001323082.2:c.826T>C	NP_001310011.1:p.Phe276Leu
NM_001323083.2:c.556T>C	NP_001310012.1:p.Phe186Leu
NM_001323084.2:c.526T>C	NP_001310013.1:p.Phe176Leu