Canonical Allele Identifier: CA376034430

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325815C>A (hg19) ; chr10:g.13283815C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283815C>A , CM000672.2:g.13283815C>A	GRCh38
NC_000010.10:g.13325815C>A , CM000672.1:g.13325815C>A	GRCh37
NC_000010.9:g.13365821C>A	NCBI36
NG_012862.1:g.21316G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.703G>T MANE Select	ENSP00000263038.4:p.Gly235Trp
ENST00000263038.8:c.703G>T	ENSP00000263038.4:p.Gly235Trp
ENST00000396913.6:c.403G>T	ENSP00000380121.2:p.Gly135Trp
ENST00000396920.7:c.652G>T	ENSP00000380126.3:p.Gly218Trp
ENST00000453759.6:c.403G>T	ENSP00000412525.2:p.Gly135Trp
NM_001037537.1:c.403G>T	NP_001032626.1:p.Gly135Trp
NM_006214.3:c.703G>T	NP_006205.1:p.Gly235Trp
XM_005252469.2:c.484G>T	XP_005252526.1:p.Gly162Trp
NM_001323080.1:c.403G>T	NP_001310009.1:p.Gly135Trp
NM_001323082.1:c.709G>T	NP_001310011.1:p.Gly237Trp
NM_001323083.1:c.439G>T	NP_001310012.1:p.Gly147Trp
NM_001323084.1:c.409G>T	NP_001310013.1:p.Gly137Trp
NM_006214.4:c.703G>T MANE Select	NP_006205.1:p.Gly235Trp
NM_001037537.2:c.403G>T	NP_001032626.1:p.Gly135Trp
NM_001323080.2:c.403G>T	NP_001310009.1:p.Gly135Trp
NM_001323082.2:c.709G>T	NP_001310011.1:p.Gly237Trp
NM_001323083.2:c.439G>T	NP_001310012.1:p.Gly147Trp
NM_001323084.2:c.409G>T	NP_001310013.1:p.Gly137Trp