Canonical Allele Identifier: CA376034200

Gene: PHYH

Linked Data

• gnomAD v4: 10-13283764-T-C
• MyVariant Identifiers: chr10:g.13325764T>C (hg19) ; chr10:g.13283764T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283764T>C , CM000672.2:g.13283764T>C	GRCh38
NC_000010.10:g.13325764T>C , CM000672.1:g.13325764T>C	GRCh37
NC_000010.9:g.13365770T>C	NCBI36
NG_012862.1:g.21367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.754A>G MANE Select	ENSP00000263038.4:p.Lys252Glu
ENST00000263038.8:c.754A>G	ENSP00000263038.4:p.Lys252Glu
ENST00000396913.6:c.454A>G	ENSP00000380121.2:p.Lys152Glu
ENST00000396920.7:c.703A>G	ENSP00000380126.3:p.Lys235Glu
ENST00000453759.6:c.454A>G	ENSP00000412525.2:p.Lys152Glu
NM_001037537.1:c.454A>G	NP_001032626.1:p.Lys152Glu
NM_006214.3:c.754A>G	NP_006205.1:p.Lys252Glu
XM_005252469.2:c.535A>G	XP_005252526.1:p.Lys179Glu
NM_001323080.1:c.454A>G	NP_001310009.1:p.Lys152Glu
NM_001323082.1:c.760A>G	NP_001310011.1:p.Lys254Glu
NM_001323083.1:c.490A>G	NP_001310012.1:p.Lys164Glu
NM_001323084.1:c.460A>G	NP_001310013.1:p.Lys154Glu
NM_006214.4:c.754A>G MANE Select	NP_006205.1:p.Lys252Glu
NM_001037537.2:c.454A>G	NP_001032626.1:p.Lys152Glu
NM_001323080.2:c.454A>G	NP_001310009.1:p.Lys152Glu
NM_001323082.2:c.760A>G	NP_001310011.1:p.Lys254Glu
NM_001323083.2:c.490A>G	NP_001310012.1:p.Lys164Glu
NM_001323084.2:c.460A>G	NP_001310013.1:p.Lys154Glu