Canonical Allele Identifier: CA376034252

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325776G>C (hg19) ; chr10:g.13283776G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283776G>C , CM000672.2:g.13283776G>C	GRCh38
NC_000010.10:g.13325776G>C , CM000672.1:g.13325776G>C	GRCh37
NC_000010.9:g.13365782G>C	NCBI36
NG_012862.1:g.21355C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.742C>G MANE Select	ENSP00000263038.4:p.Leu248Val
ENST00000263038.8:c.742C>G	ENSP00000263038.4:p.Leu248Val
ENST00000396913.6:c.442C>G	ENSP00000380121.2:p.Leu148Val
ENST00000396920.7:c.691C>G	ENSP00000380126.3:p.Leu231Val
ENST00000453759.6:c.442C>G	ENSP00000412525.2:p.Leu148Val
NM_001037537.1:c.442C>G	NP_001032626.1:p.Leu148Val
NM_006214.3:c.742C>G	NP_006205.1:p.Leu248Val
XM_005252469.2:c.523C>G	XP_005252526.1:p.Leu175Val
NM_001323080.1:c.442C>G	NP_001310009.1:p.Leu148Val
NM_001323082.1:c.748C>G	NP_001310011.1:p.Leu250Val
NM_001323083.1:c.478C>G	NP_001310012.1:p.Leu160Val
NM_001323084.1:c.448C>G	NP_001310013.1:p.Leu150Val
NM_006214.4:c.742C>G MANE Select	NP_006205.1:p.Leu248Val
NM_001037537.2:c.442C>G	NP_001032626.1:p.Leu148Val
NM_001323080.2:c.442C>G	NP_001310009.1:p.Leu148Val
NM_001323082.2:c.748C>G	NP_001310011.1:p.Leu250Val
NM_001323083.2:c.478C>G	NP_001310012.1:p.Leu160Val
NM_001323084.2:c.448C>G	NP_001310013.1:p.Leu150Val