Canonical Allele Identifier: CA376035382

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13330428C>G (hg19) ; chr10:g.13288428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288428C>G , CM000672.2:g.13288428C>G	GRCh38
NC_000010.10:g.13330428C>G , CM000672.1:g.13330428C>G	GRCh37
NC_000010.9:g.13370434C>G	NCBI36
NG_012862.1:g.16703G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.610G>C MANE Select	ENSP00000263038.4:p.Gly204Arg
ENST00000263038.8:c.610G>C	ENSP00000263038.4:p.Gly204Arg
ENST00000396913.6:c.310G>C	ENSP00000380121.2:p.Gly104Arg
ENST00000396920.7:c.559G>C	ENSP00000380126.3:p.Gly187Arg
ENST00000453759.6:c.310G>C	ENSP00000412525.2:p.Gly104Arg
ENST00000479604.1:c.616G>C	ENSP00000420117.1:p.Gly206Arg
NM_001037537.1:c.310G>C	NP_001032626.1:p.Gly104Arg
NM_006214.3:c.610G>C	NP_006205.1:p.Gly204Arg
XM_005252469.2:c.460-4589G>C	XP_005252526.1:n.460-4589G>C
NM_001323080.1:c.310G>C	NP_001310009.1:p.Gly104Arg
NM_001323082.1:c.616G>C	NP_001310011.1:p.Gly206Arg
NM_001323083.1:c.415-4589G>C	NP_001310012.1:n.415-4589G>C
NM_001323084.1:c.316G>C	NP_001310013.1:p.Gly106Arg
NM_006214.4:c.610G>C MANE Select	NP_006205.1:p.Gly204Arg
NM_001037537.2:c.310G>C	NP_001032626.1:p.Gly104Arg
NM_001323080.2:c.310G>C	NP_001310009.1:p.Gly104Arg
NM_001323082.2:c.616G>C	NP_001310011.1:p.Gly206Arg
NM_001323083.2:c.415-4589G>C	NP_001310012.1:n.415-4589G>C
NM_001323084.2:c.316G>C	NP_001310013.1:p.Gly106Arg