Canonical Allele Identifier: CA468236889

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325732G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283732G>C , CM000672.2:g.13283732G>C	GRCh38
NC_000010.10:g.13325732G>C , CM000672.1:g.13325732G>C	GRCh37
NC_000010.9:g.13365738G>C	NCBI36
NG_012862.1:g.21399C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.786C>G MANE Select	ENSP00000263038.4:p.Leu262=
ENST00000263038.8:c.786C>G	ENSP00000263038.4:p.Leu262=
ENST00000396913.6:c.486C>G	ENSP00000380121.2:p.Leu162=
ENST00000396920.7:c.735C>G	ENSP00000380126.3:p.Leu245=
ENST00000453759.6:c.486C>G	ENSP00000412525.2:p.Leu162=
NM_001037537.1:c.486C>G	NP_001032626.1:p.Leu162=
NM_006214.3:c.786C>G	NP_006205.1:p.Leu262=
XM_005252469.2:c.567C>G	XP_005252526.1:p.Leu189=
NM_001323080.1:c.486C>G	NP_001310009.1:p.Leu162=
NM_001323082.1:c.792C>G	NP_001310011.1:p.Leu264=
NM_001323083.1:c.522C>G	NP_001310012.1:p.Leu174=
NM_001323084.1:c.492C>G	NP_001310013.1:p.Leu164=
NM_006214.4:c.786C>G MANE Select	NP_006205.1:p.Leu262=
NM_001037537.2:c.486C>G	NP_001032626.1:p.Leu162=
NM_001323080.2:c.486C>G	NP_001310009.1:p.Leu162=
NM_001323082.2:c.792C>G	NP_001310011.1:p.Leu264=
NM_001323083.2:c.522C>G	NP_001310012.1:p.Leu174=
NM_001323084.2:c.492C>G	NP_001310013.1:p.Leu164=