Canonical Allele Identifier: CA376034056

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325700C>G (hg19) ; chr10:g.13283700C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.818G>C MANE Select	ENSP00000263038.4:p.Gly273Ala
ENST00000263038.8:c.818G>C	ENSP00000263038.4:p.Gly273Ala
ENST00000396913.6:c.518G>C	ENSP00000380121.2:p.Gly173Ala
ENST00000396920.7:c.767G>C	ENSP00000380126.3:p.Gly256Ala
ENST00000453759.6:c.518G>C	ENSP00000412525.2:p.Gly173Ala
NM_001037537.1:c.518G>C	NP_001032626.1:p.Gly173Ala
NM_006214.3:c.818G>C	NP_006205.1:p.Gly273Ala
XM_005252469.2:c.599G>C	XP_005252526.1:p.Gly200Ala
NM_001323080.1:c.518G>C	NP_001310009.1:p.Gly173Ala
NM_001323082.1:c.824G>C	NP_001310011.1:p.Gly275Ala
NM_001323083.1:c.554G>C	NP_001310012.1:p.Gly185Ala
NM_001323084.1:c.524G>C	NP_001310013.1:p.Gly175Ala
NM_006214.4:c.818G>C MANE Select	NP_006205.1:p.Gly273Ala
NM_001037537.2:c.518G>C	NP_001032626.1:p.Gly173Ala
NM_001323080.2:c.518G>C	NP_001310009.1:p.Gly173Ala
NM_001323082.2:c.824G>C	NP_001310011.1:p.Gly275Ala
NM_001323083.2:c.554G>C	NP_001310012.1:p.Gly185Ala
NM_001323084.2:c.524G>C	NP_001310013.1:p.Gly175Ala