Canonical Allele Identifier: CA376051262

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13323010T>A (hg19) ; chr10:g.13281010T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13281010T>A , CM000672.2:g.13281010T>A	GRCh38
NC_000010.10:g.13323010T>A , CM000672.1:g.13323010T>A	GRCh37
NC_000010.9:g.13363016T>A	NCBI36
NG_012862.1:g.24121A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.929A>T MANE Select	ENSP00000263038.4:p.Lys310Ile
ENST00000263038.8:c.929A>T	ENSP00000263038.4:p.Lys310Ile
ENST00000396913.6:c.629A>T	ENSP00000380121.2:p.Lys210Ile
ENST00000396920.7:c.878A>T	ENSP00000380126.3:p.Lys293Ile
NM_001037537.1:c.629A>T	NP_001032626.1:p.Lys210Ile
NM_006214.3:c.929A>T	NP_006205.1:p.Lys310Ile
XM_005252469.2:c.710A>T	XP_005252526.1:p.Lys237Ile
NM_001323080.1:c.629A>T	NP_001310009.1:p.Lys210Ile
NM_001323082.1:c.935A>T	NP_001310011.1:p.Lys312Ile
NM_001323083.1:c.665A>T	NP_001310012.1:p.Lys222Ile
NM_001323084.1:c.635A>T	NP_001310013.1:p.Lys212Ile
NM_006214.4:c.929A>T MANE Select	NP_006205.1:p.Lys310Ile
NM_001037537.2:c.629A>T	NP_001032626.1:p.Lys210Ile
NM_001323080.2:c.629A>T	NP_001310009.1:p.Lys210Ile
NM_001323082.2:c.935A>T	NP_001310011.1:p.Lys312Ile
NM_001323083.2:c.665A>T	NP_001310012.1:p.Lys222Ile
NM_001323084.2:c.635A>T	NP_001310013.1:p.Lys212Ile