Canonical Allele Identifier: CA2574492160

Gene: PHYH

Linked Data

• gnomAD v4: 10-13298125-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13298125T>C , CM000672.2:g.13298125T>C	GRCh38
NC_000010.10:g.13340125T>C , CM000672.1:g.13340125T>C	GRCh37
NC_000010.9:g.13380131T>C	NCBI36
NG_012862.1:g.7006A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.134+62A>G MANE Select	ENSP00000263038.4:n.134+62A>G
ENST00000263038.8:c.134+62A>G	ENSP00000263038.4:n.134+62A>G
ENST00000396913.6:c.-167+1295A>G	ENSP00000380121.2:n.-167+1295A>G
ENST00000396920.7:c.77+62A>G	ENSP00000380126.3:n.77+62A>G
ENST00000453759.6:c.-167+62A>G	ENSP00000412525.2:n.-167+62A>G
ENST00000463730.1:n.189+62A>G
ENST00000479604.1:c.134+62A>G	ENSP00000420117.1:n.134+62A>G
NM_001037537.1:c.-167+1295A>G	NP_001032626.1:n.-167+1295A>G
NM_006214.3:c.134+62A>G	NP_006205.1:n.134+62A>G
XM_005252469.2:c.179+62A>G	XP_005252526.1:n.179+62A>G
NM_001323080.1:c.-167+62A>G	NP_001310009.1:n.-167+62A>G
NM_001323082.1:c.134+62A>G	NP_001310011.1:n.134+62A>G
NM_001323083.1:c.134+62A>G	NP_001310012.1:n.134+62A>G
NM_001323084.1:c.-167+1295A>G	NP_001310013.1:n.-167+1295A>G
NM_006214.4:c.134+62A>G MANE Select	NP_006205.1:n.134+62A>G
NM_001037537.2:c.-167+1295A>G	NP_001032626.1:n.-167+1295A>G
NM_001323080.2:c.-167+62A>G	NP_001310009.1:n.-167+62A>G
NM_001323082.2:c.134+62A>G	NP_001310011.1:n.134+62A>G
NM_001323083.2:c.134+62A>G	NP_001310012.1:n.134+62A>G
NM_001323084.2:c.-167+1295A>G	NP_001310013.1:n.-167+1295A>G