Canonical Allele Identifier: CA376034155

Gene: PHYH

Linked Data

• gnomAD v4: 10-13283744-G-C
• MyVariant Identifiers: chr10:g.13325744G>C (hg19) ; chr10:g.13283744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283744G>C , CM000672.2:g.13283744G>C	GRCh38
NC_000010.10:g.13325744G>C , CM000672.1:g.13325744G>C	GRCh37
NC_000010.9:g.13365750G>C	NCBI36
NG_012862.1:g.21387C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.774C>G MANE Select	ENSP00000263038.4:p.Phe258Leu
ENST00000263038.8:c.774C>G	ENSP00000263038.4:p.Phe258Leu
ENST00000396913.6:c.474C>G	ENSP00000380121.2:p.Phe158Leu
ENST00000396920.7:c.723C>G	ENSP00000380126.3:p.Phe241Leu
ENST00000453759.6:c.474C>G	ENSP00000412525.2:p.Phe158Leu
NM_001037537.1:c.474C>G	NP_001032626.1:p.Phe158Leu
NM_006214.3:c.774C>G	NP_006205.1:p.Phe258Leu
XM_005252469.2:c.555C>G	XP_005252526.1:p.Phe185Leu
NM_001323080.1:c.474C>G	NP_001310009.1:p.Phe158Leu
NM_001323082.1:c.780C>G	NP_001310011.1:p.Phe260Leu
NM_001323083.1:c.510C>G	NP_001310012.1:p.Phe170Leu
NM_001323084.1:c.480C>G	NP_001310013.1:p.Phe160Leu
NM_006214.4:c.774C>G MANE Select	NP_006205.1:p.Phe258Leu
NM_001037537.2:c.474C>G	NP_001032626.1:p.Phe158Leu
NM_001323080.2:c.474C>G	NP_001310009.1:p.Phe158Leu
NM_001323082.2:c.780C>G	NP_001310011.1:p.Phe260Leu
NM_001323083.2:c.510C>G	NP_001310012.1:p.Phe170Leu
NM_001323084.2:c.480C>G	NP_001310013.1:p.Phe160Leu