Canonical Allele Identifier: CA376036855

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13294443G>C , CM000672.2:g.13294443G>C	GRCh38
NC_000010.10:g.13336443G>C , CM000672.1:g.13336443G>C	GRCh37
NC_000010.9:g.13376449G>C	NCBI36
NG_012862.1:g.10688C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.399C>G MANE Select	NP_006205.1:p.Tyr133Ter
ENST00000263038.9:c.399C>G MANE Select	ENSP00000263038.4:p.Tyr133Ter
NM_001037537.1:c.99C>G	NP_001032626.1:p.Tyr33Ter
NM_001037537.2:c.99C>G	NP_001032626.1:p.Tyr33Ter
NM_001323080.1:c.99C>G	NP_001310009.1:p.Tyr33Ter
NM_001323080.2:c.99C>G	NP_001310009.1:p.Tyr33Ter
NM_001323082.1:c.399C>G	NP_001310011.1:p.Tyr133Ter
NM_001323082.2:c.399C>G	NP_001310011.1:p.Tyr133Ter
NM_001323083.1:c.399C>G	NP_001310012.1:p.Tyr133Ter
NM_001323083.2:c.399C>G	NP_001310012.1:p.Tyr133Ter
NM_001323084.1:c.99C>G	NP_001310013.1:p.Tyr33Ter
NM_001323084.2:c.99C>G	NP_001310013.1:p.Tyr33Ter
NM_006214.3:c.399C>G	NP_006205.1:p.Tyr133Ter
ENST00000263038.8:c.399C>G	ENSP00000263038.4:p.Tyr133Ter
ENST00000396913.6:c.99C>G	ENSP00000380121.2:p.Tyr33Ter
ENST00000396920.7:c.342C>G	ENSP00000380126.3:p.Tyr114Ter
ENST00000453759.6:c.99C>G	ENSP00000412525.2:p.Tyr33Ter
ENST00000464049.1:n.545C>G
ENST00000479604.1:c.399C>G	ENSP00000420117.1:p.Tyr133Ter
XM_005252469.2:c.444C>G	XP_005252526.1:p.Tyr148Ter