Canonical Allele Identifier: CA376034399

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325808T>A (hg19) ; chr10:g.13283808T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283808T>A , CM000672.2:g.13283808T>A	GRCh38
NC_000010.10:g.13325808T>A , CM000672.1:g.13325808T>A	GRCh37
NC_000010.9:g.13365814T>A	NCBI36
NG_012862.1:g.21323A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.710A>T MANE Select	ENSP00000263038.4:p.Gln237Leu
ENST00000263038.8:c.710A>T	ENSP00000263038.4:p.Gln237Leu
ENST00000396913.6:c.410A>T	ENSP00000380121.2:p.Gln137Leu
ENST00000396920.7:c.659A>T	ENSP00000380126.3:p.Gln220Leu
ENST00000453759.6:c.410A>T	ENSP00000412525.2:p.Gln137Leu
NM_001037537.1:c.410A>T	NP_001032626.1:p.Gln137Leu
NM_006214.3:c.710A>T	NP_006205.1:p.Gln237Leu
XM_005252469.2:c.491A>T	XP_005252526.1:p.Gln164Leu
NM_001323080.1:c.410A>T	NP_001310009.1:p.Gln137Leu
NM_001323082.1:c.716A>T	NP_001310011.1:p.Gln239Leu
NM_001323083.1:c.446A>T	NP_001310012.1:p.Gln149Leu
NM_001323084.1:c.416A>T	NP_001310013.1:p.Gln139Leu
NM_006214.4:c.710A>T MANE Select	NP_006205.1:p.Gln237Leu
NM_001037537.2:c.410A>T	NP_001032626.1:p.Gln137Leu
NM_001323080.2:c.410A>T	NP_001310009.1:p.Gln137Leu
NM_001323082.2:c.716A>T	NP_001310011.1:p.Gln239Leu
NM_001323083.2:c.446A>T	NP_001310012.1:p.Gln149Leu
NM_001323084.2:c.416A>T	NP_001310013.1:p.Gln139Leu