Canonical Allele Identifier: CA376035415

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13330434T>A (hg19) ; chr10:g.13288434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288434T>A , CM000672.2:g.13288434T>A	GRCh38
NC_000010.10:g.13330434T>A , CM000672.1:g.13330434T>A	GRCh37
NC_000010.9:g.13370440T>A	NCBI36
NG_012862.1:g.16697A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.604A>T MANE Select	ENSP00000263038.4:p.Asn202Tyr
ENST00000263038.8:c.604A>T	ENSP00000263038.4:p.Asn202Tyr
ENST00000396913.6:c.304A>T	ENSP00000380121.2:p.Asn102Tyr
ENST00000396920.7:c.553A>T	ENSP00000380126.3:p.Asn185Tyr
ENST00000453759.6:c.304A>T	ENSP00000412525.2:p.Asn102Tyr
ENST00000479604.1:c.610A>T	ENSP00000420117.1:p.Asn204Tyr
NM_001037537.1:c.304A>T	NP_001032626.1:p.Asn102Tyr
NM_006214.3:c.604A>T	NP_006205.1:p.Asn202Tyr
XM_005252469.2:c.460-4595A>T	XP_005252526.1:n.460-4595A>T
NM_001323080.1:c.304A>T	NP_001310009.1:p.Asn102Tyr
NM_001323082.1:c.610A>T	NP_001310011.1:p.Asn204Tyr
NM_001323083.1:c.415-4595A>T	NP_001310012.1:n.415-4595A>T
NM_001323084.1:c.310A>T	NP_001310013.1:p.Asn104Tyr
NM_006214.4:c.604A>T MANE Select	NP_006205.1:p.Asn202Tyr
NM_001037537.2:c.304A>T	NP_001032626.1:p.Asn102Tyr
NM_001323080.2:c.304A>T	NP_001310009.1:p.Asn102Tyr
NM_001323082.2:c.610A>T	NP_001310011.1:p.Asn204Tyr
NM_001323083.2:c.415-4595A>T	NP_001310012.1:n.415-4595A>T
NM_001323084.2:c.310A>T	NP_001310013.1:p.Asn104Tyr