Canonical Allele Identifier: CA376034239

Gene: PHYH

Linked Data

• dbSNP Id: rs1835475589
• MyVariant Identifiers: chr10:g.13325773C>A (hg19) ; chr10:g.13283773C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283773C>A , CM000672.2:g.13283773C>A	GRCh38
NC_000010.10:g.13325773C>A , CM000672.1:g.13325773C>A	GRCh37
NC_000010.9:g.13365779C>A	NCBI36
NG_012862.1:g.21358G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.745G>T MANE Select	ENSP00000263038.4:p.Val249Leu
ENST00000263038.8:c.745G>T	ENSP00000263038.4:p.Val249Leu
ENST00000396913.6:c.445G>T	ENSP00000380121.2:p.Val149Leu
ENST00000396920.7:c.694G>T	ENSP00000380126.3:p.Val232Leu
ENST00000453759.6:c.445G>T	ENSP00000412525.2:p.Val149Leu
NM_001037537.1:c.445G>T	NP_001032626.1:p.Val149Leu
NM_006214.3:c.745G>T	NP_006205.1:p.Val249Leu
XM_005252469.2:c.526G>T	XP_005252526.1:p.Val176Leu
NM_001323080.1:c.445G>T	NP_001310009.1:p.Val149Leu
NM_001323082.1:c.751G>T	NP_001310011.1:p.Val251Leu
NM_001323083.1:c.481G>T	NP_001310012.1:p.Val161Leu
NM_001323084.1:c.451G>T	NP_001310013.1:p.Val151Leu
NM_006214.4:c.745G>T MANE Select	NP_006205.1:p.Val249Leu
NM_001037537.2:c.445G>T	NP_001032626.1:p.Val149Leu
NM_001323080.2:c.445G>T	NP_001310009.1:p.Val149Leu
NM_001323082.2:c.751G>T	NP_001310011.1:p.Val251Leu
NM_001323083.2:c.481G>T	NP_001310012.1:p.Val161Leu
NM_001323084.2:c.451G>T	NP_001310013.1:p.Val151Leu