Canonical Allele Identifier: CA376034096

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325716G>T (hg19) ; chr10:g.13283716G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283716G>T , CM000672.2:g.13283716G>T	GRCh38
NC_000010.10:g.13325716G>T , CM000672.1:g.13325716G>T	GRCh37
NC_000010.9:g.13365722G>T	NCBI36
NG_012862.1:g.21415C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.802C>A MANE Select	ENSP00000263038.4:p.Gln268Lys
ENST00000263038.8:c.802C>A	ENSP00000263038.4:p.Gln268Lys
ENST00000396913.6:c.502C>A	ENSP00000380121.2:p.Gln168Lys
ENST00000396920.7:c.751C>A	ENSP00000380126.3:p.Gln251Lys
ENST00000453759.6:c.502C>A	ENSP00000412525.2:p.Gln168Lys
NM_001037537.1:c.502C>A	NP_001032626.1:p.Gln168Lys
NM_006214.3:c.802C>A	NP_006205.1:p.Gln268Lys
XM_005252469.2:c.583C>A	XP_005252526.1:p.Gln195Lys
NM_001323080.1:c.502C>A	NP_001310009.1:p.Gln168Lys
NM_001323082.1:c.808C>A	NP_001310011.1:p.Gln270Lys
NM_001323083.1:c.538C>A	NP_001310012.1:p.Gln180Lys
NM_001323084.1:c.508C>A	NP_001310013.1:p.Gln170Lys
NM_006214.4:c.802C>A MANE Select	NP_006205.1:p.Gln268Lys
NM_001037537.2:c.502C>A	NP_001032626.1:p.Gln168Lys
NM_001323080.2:c.502C>A	NP_001310009.1:p.Gln168Lys
NM_001323082.2:c.808C>A	NP_001310011.1:p.Gln270Lys
NM_001323083.2:c.538C>A	NP_001310012.1:p.Gln180Lys
NM_001323084.2:c.508C>A	NP_001310013.1:p.Gln170Lys