Canonical Allele Identifier: CA468237150

Gene: PHYH

Linked Data

• dbSNP Id: rs1342277827
• gnomAD v2: 10-13325810-G-A
• gnomAD v4: 10-13283810-G-A
• MyVariant Identifiers: chr10:g.13325810G>A (hg19) ; chr10:g.13283810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283810G>A , CM000672.2:g.13283810G>A	GRCh38
NC_000010.10:g.13325810G>A , CM000672.1:g.13325810G>A	GRCh37
NC_000010.9:g.13365816G>A	NCBI36
NG_012862.1:g.21321C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.708C>T MANE Select	ENSP00000263038.4:p.Ile236=
ENST00000263038.8:c.708C>T	ENSP00000263038.4:p.Ile236=
ENST00000396913.6:c.408C>T	ENSP00000380121.2:p.Ile136=
ENST00000396920.7:c.657C>T	ENSP00000380126.3:p.Ile219=
ENST00000453759.6:c.408C>T	ENSP00000412525.2:p.Ile136=
NM_001037537.1:c.408C>T	NP_001032626.1:p.Ile136=
NM_006214.3:c.708C>T	NP_006205.1:p.Ile236=
XM_005252469.2:c.489C>T	XP_005252526.1:p.Ile163=
NM_001323080.1:c.408C>T	NP_001310009.1:p.Ile136=
NM_001323082.1:c.714C>T	NP_001310011.1:p.Ile238=
NM_001323083.1:c.444C>T	NP_001310012.1:p.Ile148=
NM_001323084.1:c.414C>T	NP_001310013.1:p.Ile138=
NM_006214.4:c.708C>T MANE Select	NP_006205.1:p.Ile236=
NM_001037537.2:c.408C>T	NP_001032626.1:p.Ile136=
NM_001323080.2:c.408C>T	NP_001310009.1:p.Ile136=
NM_001323082.2:c.714C>T	NP_001310011.1:p.Ile238=
NM_001323083.2:c.444C>T	NP_001310012.1:p.Ile148=
NM_001323084.2:c.414C>T	NP_001310013.1:p.Ile138=