Canonical Allele Identifier: CA376034110

Gene: PHYH

Linked Data

• gnomAD v4: 10-13283724-C-G
• MyVariant Identifiers: chr10:g.13325724C>G (hg19) ; chr10:g.13283724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283724C>G , CM000672.2:g.13283724C>G	GRCh38
NC_000010.10:g.13325724C>G , CM000672.1:g.13325724C>G	GRCh37
NC_000010.9:g.13365730C>G	NCBI36
NG_012862.1:g.21407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.794G>C MANE Select	ENSP00000263038.4:p.Gly265Ala
ENST00000263038.8:c.794G>C	ENSP00000263038.4:p.Gly265Ala
ENST00000396913.6:c.494G>C	ENSP00000380121.2:p.Gly165Ala
ENST00000396920.7:c.743G>C	ENSP00000380126.3:p.Gly248Ala
ENST00000453759.6:c.494G>C	ENSP00000412525.2:p.Gly165Ala
NM_001037537.1:c.494G>C	NP_001032626.1:p.Gly165Ala
NM_006214.3:c.794G>C	NP_006205.1:p.Gly265Ala
XM_005252469.2:c.575G>C	XP_005252526.1:p.Gly192Ala
NM_001323080.1:c.494G>C	NP_001310009.1:p.Gly165Ala
NM_001323082.1:c.800G>C	NP_001310011.1:p.Gly267Ala
NM_001323083.1:c.530G>C	NP_001310012.1:p.Gly177Ala
NM_001323084.1:c.500G>C	NP_001310013.1:p.Gly167Ala
NM_006214.4:c.794G>C MANE Select	NP_006205.1:p.Gly265Ala
NM_001037537.2:c.494G>C	NP_001032626.1:p.Gly165Ala
NM_001323080.2:c.494G>C	NP_001310009.1:p.Gly165Ala
NM_001323082.2:c.800G>C	NP_001310011.1:p.Gly267Ala
NM_001323083.2:c.530G>C	NP_001310012.1:p.Gly177Ala
NM_001323084.2:c.500G>C	NP_001310013.1:p.Gly167Ala