Canonical Allele Identifier: CA5412247

Gene: PHYH

Linked Data

• ClinVar Variation Id: 1922339
• ClinVar RCV Id: RCV002621584
• dbSNP Id: rs753737115
• ExAC: 10:13325785 G / A
• gnomAD v2: 10-13325785-G-A
• gnomAD v3: 10-13283785-G-A
• gnomAD v4: 10-13283785-G-A
• MyVariant Identifiers: chr10:g.13325785G>A (hg19) ; chr10:g.13283785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283785G>A , CM000672.2:g.13283785G>A	GRCh38
NC_000010.10:g.13325785G>A , CM000672.1:g.13325785G>A	GRCh37
NC_000010.9:g.13365791G>A	NCBI36
NG_012862.1:g.21346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.733C>T MANE Select	ENSP00000263038.4:p.Arg245Trp
ENST00000263038.8:c.733C>T	ENSP00000263038.4:p.Arg245Trp
ENST00000396913.6:c.433C>T	ENSP00000380121.2:p.Arg145Trp
ENST00000396920.7:c.682C>T	ENSP00000380126.3:p.Arg228Trp
ENST00000453759.6:c.433C>T	ENSP00000412525.2:p.Arg145Trp
NM_001037537.1:c.433C>T	NP_001032626.1:p.Arg145Trp
NM_006214.3:c.733C>T	NP_006205.1:p.Arg245Trp
XM_005252469.2:c.514C>T	XP_005252526.1:p.Arg172Trp
NM_001323080.1:c.433C>T	NP_001310009.1:p.Arg145Trp
NM_001323082.1:c.739C>T	NP_001310011.1:p.Arg247Trp
NM_001323083.1:c.469C>T	NP_001310012.1:p.Arg157Trp
NM_001323084.1:c.439C>T	NP_001310013.1:p.Arg147Trp
NM_006214.4:c.733C>T MANE Select	NP_006205.1:p.Arg245Trp
NM_001037537.2:c.433C>T	NP_001032626.1:p.Arg145Trp
NM_001323080.2:c.433C>T	NP_001310009.1:p.Arg145Trp
NM_001323082.2:c.739C>T	NP_001310011.1:p.Arg247Trp
NM_001323083.2:c.469C>T	NP_001310012.1:p.Arg157Trp
NM_001323084.2:c.439C>T	NP_001310013.1:p.Arg147Trp