Canonical Allele Identifier: CA376034057

Gene: PHYH

Linked Data

• gnomAD v4: 10-13283700-C-T
• MyVariant Identifiers: chr10:g.13325700C>T (hg19) ; chr10:g.13283700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283700C>T , CM000672.2:g.13283700C>T	GRCh38
NC_000010.10:g.13325700C>T , CM000672.1:g.13325700C>T	GRCh37
NC_000010.9:g.13365706C>T	NCBI36
NG_012862.1:g.21431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.818G>A MANE Select	ENSP00000263038.4:p.Gly273Glu
ENST00000263038.8:c.818G>A	ENSP00000263038.4:p.Gly273Glu
ENST00000396913.6:c.518G>A	ENSP00000380121.2:p.Gly173Glu
ENST00000396920.7:c.767G>A	ENSP00000380126.3:p.Gly256Glu
ENST00000453759.6:c.518G>A	ENSP00000412525.2:p.Gly173Glu
NM_001037537.1:c.518G>A	NP_001032626.1:p.Gly173Glu
NM_006214.3:c.818G>A	NP_006205.1:p.Gly273Glu
XM_005252469.2:c.599G>A	XP_005252526.1:p.Gly200Glu
NM_001323080.1:c.518G>A	NP_001310009.1:p.Gly173Glu
NM_001323082.1:c.824G>A	NP_001310011.1:p.Gly275Glu
NM_001323083.1:c.554G>A	NP_001310012.1:p.Gly185Glu
NM_001323084.1:c.524G>A	NP_001310013.1:p.Gly175Glu
NM_006214.4:c.818G>A MANE Select	NP_006205.1:p.Gly273Glu
NM_001037537.2:c.518G>A	NP_001032626.1:p.Gly173Glu
NM_001323080.2:c.518G>A	NP_001310009.1:p.Gly173Glu
NM_001323082.2:c.824G>A	NP_001310011.1:p.Gly275Glu
NM_001323083.2:c.554G>A	NP_001310012.1:p.Gly185Glu
NM_001323084.2:c.524G>A	NP_001310013.1:p.Gly175Glu