Canonical Allele Identifier: CA376038106

Gene: PHYH

Linked Data

• gnomAD v4: 10-13298197-G-T
• MyVariant Identifiers: chr10:g.13340197G>T (hg19) ; chr10:g.13298197G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13298197G>T , CM000672.2:g.13298197G>T	GRCh38
NC_000010.10:g.13340197G>T , CM000672.1:g.13340197G>T	GRCh37
NC_000010.9:g.13380203G>T	NCBI36
NG_012862.1:g.6934C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.124C>A MANE Select	ENSP00000263038.4:p.Gln42Lys
ENST00000263038.8:c.124C>A	ENSP00000263038.4:p.Gln42Lys
ENST00000396913.6:c.-167+1223C>A	ENSP00000380121.2:n.-167+1223C>A
ENST00000396920.7:c.67C>A	ENSP00000380126.3:p.Gln23Lys
ENST00000453759.6:c.-177C>A	ENSP00000412525.2:n.-177C>A
ENST00000463730.1:n.179C>A
ENST00000479604.1:c.124C>A	ENSP00000420117.1:p.Gln42Lys
NM_001037537.1:c.-167+1223C>A	NP_001032626.1:n.-167+1223C>A
NM_006214.3:c.124C>A	NP_006205.1:p.Gln42Lys
XM_005252469.2:c.169C>A	XP_005252526.1:p.Gln57Lys
NM_001323080.1:c.-177C>A	NP_001310009.1:n.-177C>A
NM_001323082.1:c.124C>A	NP_001310011.1:p.Gln42Lys
NM_001323083.1:c.124C>A	NP_001310012.1:p.Gln42Lys
NM_001323084.1:c.-167+1223C>A	NP_001310013.1:n.-167+1223C>A
NM_006214.4:c.124C>A MANE Select	NP_006205.1:p.Gln42Lys
NM_001037537.2:c.-167+1223C>A	NP_001032626.1:n.-167+1223C>A
NM_001323080.2:c.-177C>A	NP_001310009.1:n.-177C>A
NM_001323082.2:c.124C>A	NP_001310011.1:p.Gln42Lys
NM_001323083.2:c.124C>A	NP_001310012.1:p.Gln42Lys
NM_001323084.2:c.-167+1223C>A	NP_001310013.1:n.-167+1223C>A