Canonical Allele Identifier: CA376034129

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325733A>C (hg19) ; chr10:g.13283733A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283733A>C , CM000672.2:g.13283733A>C	GRCh38
NC_000010.10:g.13325733A>C , CM000672.1:g.13325733A>C	GRCh37
NC_000010.9:g.13365739A>C	NCBI36
NG_012862.1:g.21398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.785T>G MANE Select	ENSP00000263038.4:p.Leu262Arg
ENST00000263038.8:c.785T>G	ENSP00000263038.4:p.Leu262Arg
ENST00000396913.6:c.485T>G	ENSP00000380121.2:p.Leu162Arg
ENST00000396920.7:c.734T>G	ENSP00000380126.3:p.Leu245Arg
ENST00000453759.6:c.485T>G	ENSP00000412525.2:p.Leu162Arg
NM_001037537.1:c.485T>G	NP_001032626.1:p.Leu162Arg
NM_006214.3:c.785T>G	NP_006205.1:p.Leu262Arg
XM_005252469.2:c.566T>G	XP_005252526.1:p.Leu189Arg
NM_001323080.1:c.485T>G	NP_001310009.1:p.Leu162Arg
NM_001323082.1:c.791T>G	NP_001310011.1:p.Leu264Arg
NM_001323083.1:c.521T>G	NP_001310012.1:p.Leu174Arg
NM_001323084.1:c.491T>G	NP_001310013.1:p.Leu164Arg
NM_006214.4:c.785T>G MANE Select	NP_006205.1:p.Leu262Arg
NM_001037537.2:c.485T>G	NP_001032626.1:p.Leu162Arg
NM_001323080.2:c.485T>G	NP_001310009.1:p.Leu162Arg
NM_001323082.2:c.791T>G	NP_001310011.1:p.Leu264Arg
NM_001323083.2:c.521T>G	NP_001310012.1:p.Leu174Arg
NM_001323084.2:c.491T>G	NP_001310013.1:p.Leu164Arg