Canonical Allele Identifier: CA376034045

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325694C>A (hg19) ; chr10:g.13283694C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283694C>A , CM000672.2:g.13283694C>A	GRCh38
NC_000010.10:g.13325694C>A , CM000672.1:g.13325694C>A	GRCh37
NC_000010.9:g.13365700C>A	NCBI36
NG_012862.1:g.21437G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.824G>T MANE Select	ENSP00000263038.4:p.Arg275Leu
ENST00000263038.8:c.824G>T	ENSP00000263038.4:p.Arg275Leu
ENST00000396913.6:c.524G>T	ENSP00000380121.2:p.Arg175Leu
ENST00000396920.7:c.773G>T	ENSP00000380126.3:p.Arg258Leu
ENST00000453759.6:c.524G>T	ENSP00000412525.2:p.Arg175Leu
NM_001037537.1:c.524G>T	NP_001032626.1:p.Arg175Leu
NM_006214.3:c.824G>T	NP_006205.1:p.Arg275Leu
XM_005252469.2:c.605G>T	XP_005252526.1:p.Arg202Leu
NM_001323080.1:c.524G>T	NP_001310009.1:p.Arg175Leu
NM_001323082.1:c.830G>T	NP_001310011.1:p.Arg277Leu
NM_001323083.1:c.560G>T	NP_001310012.1:p.Arg187Leu
NM_001323084.1:c.530G>T	NP_001310013.1:p.Arg177Leu
NM_006214.4:c.824G>T MANE Select	NP_006205.1:p.Arg275Leu
NM_001037537.2:c.524G>T	NP_001032626.1:p.Arg175Leu
NM_001323080.2:c.524G>T	NP_001310009.1:p.Arg175Leu
NM_001323082.2:c.830G>T	NP_001310011.1:p.Arg277Leu
NM_001323083.2:c.560G>T	NP_001310012.1:p.Arg187Leu
NM_001323084.2:c.530G>T	NP_001310013.1:p.Arg177Leu