Canonical Allele Identifier: CA376035401

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13330431T>G (hg19) ; chr10:g.13288431T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288431T>G , CM000672.2:g.13288431T>G	GRCh38
NC_000010.10:g.13330431T>G , CM000672.1:g.13330431T>G	GRCh37
NC_000010.9:g.13370437T>G	NCBI36
NG_012862.1:g.16700A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.607A>C MANE Select	ENSP00000263038.4:p.Asn203His
ENST00000263038.8:c.607A>C	ENSP00000263038.4:p.Asn203His
ENST00000396913.6:c.307A>C	ENSP00000380121.2:p.Asn103His
ENST00000396920.7:c.556A>C	ENSP00000380126.3:p.Asn186His
ENST00000453759.6:c.307A>C	ENSP00000412525.2:p.Asn103His
ENST00000479604.1:c.613A>C	ENSP00000420117.1:p.Asn205His
NM_001037537.1:c.307A>C	NP_001032626.1:p.Asn103His
NM_006214.3:c.607A>C	NP_006205.1:p.Asn203His
XM_005252469.2:c.460-4592A>C	XP_005252526.1:n.460-4592A>C
NM_001323080.1:c.307A>C	NP_001310009.1:p.Asn103His
NM_001323082.1:c.613A>C	NP_001310011.1:p.Asn205His
NM_001323083.1:c.415-4592A>C	NP_001310012.1:n.415-4592A>C
NM_001323084.1:c.313A>C	NP_001310013.1:p.Asn105His
NM_006214.4:c.607A>C MANE Select	NP_006205.1:p.Asn203His
NM_001037537.2:c.307A>C	NP_001032626.1:p.Asn103His
NM_001323080.2:c.307A>C	NP_001310009.1:p.Asn103His
NM_001323082.2:c.613A>C	NP_001310011.1:p.Asn205His
NM_001323083.2:c.415-4592A>C	NP_001310012.1:n.415-4592A>C
NM_001323084.2:c.313A>C	NP_001310013.1:p.Asn105His