Canonical Allele Identifier: CA376034486

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325825T>A (hg19) ; chr10:g.13283825T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283825T>A , CM000672.2:g.13283825T>A	GRCh38
NC_000010.10:g.13325825T>A , CM000672.1:g.13325825T>A	GRCh37
NC_000010.9:g.13365831T>A	NCBI36
NG_012862.1:g.21306A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.693A>T MANE Select	ENSP00000263038.4:p.Lys231Asn
ENST00000263038.8:c.693A>T	ENSP00000263038.4:p.Lys231Asn
ENST00000396913.6:c.393A>T	ENSP00000380121.2:p.Lys131Asn
ENST00000396920.7:c.642A>T	ENSP00000380126.3:p.Lys214Asn
ENST00000453759.6:c.393A>T	ENSP00000412525.2:p.Lys131Asn
NM_001037537.1:c.393A>T	NP_001032626.1:p.Lys131Asn
NM_006214.3:c.693A>T	NP_006205.1:p.Lys231Asn
XM_005252469.2:c.474A>T	XP_005252526.1:p.Lys158Asn
NM_001323080.1:c.393A>T	NP_001310009.1:p.Lys131Asn
NM_001323082.1:c.699A>T	NP_001310011.1:p.Lys233Asn
NM_001323083.1:c.429A>T	NP_001310012.1:p.Lys143Asn
NM_001323084.1:c.399A>T	NP_001310013.1:p.Lys133Asn
NM_006214.4:c.693A>T MANE Select	NP_006205.1:p.Lys231Asn
NM_001037537.2:c.393A>T	NP_001032626.1:p.Lys131Asn
NM_001323080.2:c.393A>T	NP_001310009.1:p.Lys131Asn
NM_001323082.2:c.699A>T	NP_001310011.1:p.Lys233Asn
NM_001323083.2:c.429A>T	NP_001310012.1:p.Lys143Asn
NM_001323084.2:c.399A>T	NP_001310013.1:p.Lys133Asn