Canonical Allele Identifier: CA376034223

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325769A>G (hg19) ; chr10:g.13283769A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283769A>G , CM000672.2:g.13283769A>G	GRCh38
NC_000010.10:g.13325769A>G , CM000672.1:g.13325769A>G	GRCh37
NC_000010.9:g.13365775A>G	NCBI36
NG_012862.1:g.21362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.749T>C MANE Select	ENSP00000263038.4:p.Met250Thr
ENST00000263038.8:c.749T>C	ENSP00000263038.4:p.Met250Thr
ENST00000396913.6:c.449T>C	ENSP00000380121.2:p.Met150Thr
ENST00000396920.7:c.698T>C	ENSP00000380126.3:p.Met233Thr
ENST00000453759.6:c.449T>C	ENSP00000412525.2:p.Met150Thr
NM_001037537.1:c.449T>C	NP_001032626.1:p.Met150Thr
NM_006214.3:c.749T>C	NP_006205.1:p.Met250Thr
XM_005252469.2:c.530T>C	XP_005252526.1:p.Met177Thr
NM_001323080.1:c.449T>C	NP_001310009.1:p.Met150Thr
NM_001323082.1:c.755T>C	NP_001310011.1:p.Met252Thr
NM_001323083.1:c.485T>C	NP_001310012.1:p.Met162Thr
NM_001323084.1:c.455T>C	NP_001310013.1:p.Met152Thr
NM_006214.4:c.749T>C MANE Select	NP_006205.1:p.Met250Thr
NM_001037537.2:c.449T>C	NP_001032626.1:p.Met150Thr
NM_001323080.2:c.449T>C	NP_001310009.1:p.Met150Thr
NM_001323082.2:c.755T>C	NP_001310011.1:p.Met252Thr
NM_001323083.2:c.485T>C	NP_001310012.1:p.Met162Thr
NM_001323084.2:c.455T>C	NP_001310013.1:p.Met152Thr