Canonical Allele Identifier: CA5412245

Gene: PHYH

Linked Data

• dbSNP Id: rs773067426
• ExAC: 10:13325763 T / C
• gnomAD v2: 10-13325763-T-C
• gnomAD v3: 10-13283763-T-C
• gnomAD v4: 10-13283763-T-C
• MyVariant Identifiers: chr10:g.13325763T>C (hg19) ; chr10:g.13283763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283763T>C , CM000672.2:g.13283763T>C	GRCh38
NC_000010.10:g.13325763T>C , CM000672.1:g.13325763T>C	GRCh37
NC_000010.9:g.13365769T>C	NCBI36
NG_012862.1:g.21368A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.755A>G MANE Select	ENSP00000263038.4:p.Lys252Arg
ENST00000263038.8:c.755A>G	ENSP00000263038.4:p.Lys252Arg
ENST00000396913.6:c.455A>G	ENSP00000380121.2:p.Lys152Arg
ENST00000396920.7:c.704A>G	ENSP00000380126.3:p.Lys235Arg
ENST00000453759.6:c.455A>G	ENSP00000412525.2:p.Lys152Arg
NM_001037537.1:c.455A>G	NP_001032626.1:p.Lys152Arg
NM_006214.3:c.755A>G	NP_006205.1:p.Lys252Arg
XM_005252469.2:c.536A>G	XP_005252526.1:p.Lys179Arg
NM_001323080.1:c.455A>G	NP_001310009.1:p.Lys152Arg
NM_001323082.1:c.761A>G	NP_001310011.1:p.Lys254Arg
NM_001323083.1:c.491A>G	NP_001310012.1:p.Lys164Arg
NM_001323084.1:c.461A>G	NP_001310013.1:p.Lys154Arg
NM_006214.4:c.755A>G MANE Select	NP_006205.1:p.Lys252Arg
NM_001037537.2:c.455A>G	NP_001032626.1:p.Lys152Arg
NM_001323080.2:c.455A>G	NP_001310009.1:p.Lys152Arg
NM_001323082.2:c.761A>G	NP_001310011.1:p.Lys254Arg
NM_001323083.2:c.491A>G	NP_001310012.1:p.Lys164Arg
NM_001323084.2:c.461A>G	NP_001310013.1:p.Lys154Arg