Canonical Allele Identifier: CA376034104

Gene: PHYH

Linked Data

• dbSNP Id: rs1324188528
• gnomAD v2: 10-13325721-G-C
• gnomAD v3: 10-13283721-G-C
• gnomAD v4: 10-13283721-G-C
• MyVariant Identifiers: chr10:g.13325721G>C (hg19) ; chr10:g.13283721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283721G>C , CM000672.2:g.13283721G>C	GRCh38
NC_000010.10:g.13325721G>C , CM000672.1:g.13325721G>C	GRCh37
NC_000010.9:g.13365727G>C	NCBI36
NG_012862.1:g.21410C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.797C>G MANE Select	ENSP00000263038.4:p.Ser266Cys
ENST00000263038.8:c.797C>G	ENSP00000263038.4:p.Ser266Cys
ENST00000396913.6:c.497C>G	ENSP00000380121.2:p.Ser166Cys
ENST00000396920.7:c.746C>G	ENSP00000380126.3:p.Ser249Cys
ENST00000453759.6:c.497C>G	ENSP00000412525.2:p.Ser166Cys
NM_001037537.1:c.497C>G	NP_001032626.1:p.Ser166Cys
NM_006214.3:c.797C>G	NP_006205.1:p.Ser266Cys
XM_005252469.2:c.578C>G	XP_005252526.1:p.Ser193Cys
NM_001323080.1:c.497C>G	NP_001310009.1:p.Ser166Cys
NM_001323082.1:c.803C>G	NP_001310011.1:p.Ser268Cys
NM_001323083.1:c.533C>G	NP_001310012.1:p.Ser178Cys
NM_001323084.1:c.503C>G	NP_001310013.1:p.Ser168Cys
NM_006214.4:c.797C>G MANE Select	NP_006205.1:p.Ser266Cys
NM_001037537.2:c.497C>G	NP_001032626.1:p.Ser166Cys
NM_001323080.2:c.497C>G	NP_001310009.1:p.Ser166Cys
NM_001323082.2:c.803C>G	NP_001310011.1:p.Ser268Cys
NM_001323083.2:c.533C>G	NP_001310012.1:p.Ser178Cys
NM_001323084.2:c.503C>G	NP_001310013.1:p.Ser168Cys