Canonical Allele Identifier: CA376034393

Gene: PHYH

Linked Data

• dbSNP Id: rs1296265643
• gnomAD v2: 10-13325806-C-T
• gnomAD v4: 10-13283806-C-T
• MyVariant Identifiers: chr10:g.13325806C>T (hg19) ; chr10:g.13283806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283806C>T , CM000672.2:g.13283806C>T	GRCh38
NC_000010.10:g.13325806C>T , CM000672.1:g.13325806C>T	GRCh37
NC_000010.9:g.13365812C>T	NCBI36
NG_012862.1:g.21325G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.712G>A MANE Select	ENSP00000263038.4:p.Asp238Asn
ENST00000263038.8:c.712G>A	ENSP00000263038.4:p.Asp238Asn
ENST00000396913.6:c.412G>A	ENSP00000380121.2:p.Asp138Asn
ENST00000396920.7:c.661G>A	ENSP00000380126.3:p.Asp221Asn
ENST00000453759.6:c.412G>A	ENSP00000412525.2:p.Asp138Asn
NM_001037537.1:c.412G>A	NP_001032626.1:p.Asp138Asn
NM_006214.3:c.712G>A	NP_006205.1:p.Asp238Asn
XM_005252469.2:c.493G>A	XP_005252526.1:p.Asp165Asn
NM_001323080.1:c.412G>A	NP_001310009.1:p.Asp138Asn
NM_001323082.1:c.718G>A	NP_001310011.1:p.Asp240Asn
NM_001323083.1:c.448G>A	NP_001310012.1:p.Asp150Asn
NM_001323084.1:c.418G>A	NP_001310013.1:p.Asp140Asn
NM_006214.4:c.712G>A MANE Select	NP_006205.1:p.Asp238Asn
NM_001037537.2:c.412G>A	NP_001032626.1:p.Asp138Asn
NM_001323080.2:c.412G>A	NP_001310009.1:p.Asp138Asn
NM_001323082.2:c.718G>A	NP_001310011.1:p.Asp240Asn
NM_001323083.2:c.448G>A	NP_001310012.1:p.Asp150Asn
NM_001323084.2:c.418G>A	NP_001310013.1:p.Asp140Asn