Canonical Allele Identifier: CA468242023

Gene: PHYH

Linked Data

• gnomAD v4: 10-13298201-A-G
• MyVariant Identifiers: chr10:g.13340201A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13298201A>G , CM000672.2:g.13298201A>G	GRCh38
NC_000010.10:g.13340201A>G , CM000672.1:g.13340201A>G	GRCh37
NC_000010.9:g.13380207A>G	NCBI36
NG_012862.1:g.6930T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.120T>C MANE Select	ENSP00000263038.4:p.His40=
ENST00000263038.8:c.120T>C	ENSP00000263038.4:p.His40=
ENST00000396913.6:c.-167+1219T>C	ENSP00000380121.2:n.-167+1219T>C
ENST00000396920.7:c.63T>C	ENSP00000380126.3:p.His21=
ENST00000453759.6:c.-181T>C	ENSP00000412525.2:n.-181T>C
ENST00000463730.1:n.175T>C
ENST00000479604.1:c.120T>C	ENSP00000420117.1:p.His40=
NM_001037537.1:c.-167+1219T>C	NP_001032626.1:n.-167+1219T>C
NM_006214.3:c.120T>C	NP_006205.1:p.His40=
XM_005252469.2:c.165T>C	XP_005252526.1:p.His55=
NM_001323080.1:c.-181T>C	NP_001310009.1:n.-181T>C
NM_001323082.1:c.120T>C	NP_001310011.1:p.His40=
NM_001323083.1:c.120T>C	NP_001310012.1:p.His40=
NM_001323084.1:c.-167+1219T>C	NP_001310013.1:n.-167+1219T>C
NM_006214.4:c.120T>C MANE Select	NP_006205.1:p.His40=
NM_001037537.2:c.-167+1219T>C	NP_001032626.1:n.-167+1219T>C
NM_001323080.2:c.-181T>C	NP_001310009.1:n.-181T>C
NM_001323082.2:c.120T>C	NP_001310011.1:p.His40=
NM_001323083.2:c.120T>C	NP_001310012.1:p.His40=
NM_001323084.2:c.-167+1219T>C	NP_001310013.1:n.-167+1219T>C