Canonical Allele Identifier: CA203488

Gene: PHYH

Linked Data

• ClinVar Variation Id: 198539
• ClinVar RCV Id: RCV000179914 ; RCV000665931 ; RCV000950185 ; RCV000755125 ; RCV001258288
• dbSNP Id: rs62619919
• ExAC: 10:13325784 C / T
• gnomAD v2: 10-13325784-C-T
• gnomAD v3: 10-13283784-C-T
• gnomAD v4: 10-13283784-C-T
• MyVariant Identifiers: chr10:g.13325784C>T (hg19) ; chr10:g.13283784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283784C>T , CM000672.2:g.13283784C>T	GRCh38
NC_000010.10:g.13325784C>T , CM000672.1:g.13325784C>T	GRCh37
NC_000010.9:g.13365790C>T	NCBI36
NG_012862.1:g.21347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.734G>A MANE Select	ENSP00000263038.4:p.Arg245Gln
ENST00000263038.8:c.734G>A	ENSP00000263038.4:p.Arg245Gln
ENST00000396913.6:c.434G>A	ENSP00000380121.2:p.Arg145Gln
ENST00000396920.7:c.683G>A	ENSP00000380126.3:p.Arg228Gln
ENST00000453759.6:c.434G>A	ENSP00000412525.2:p.Arg145Gln
NM_001037537.1:c.434G>A	NP_001032626.1:p.Arg145Gln
NM_006214.3:c.734G>A	NP_006205.1:p.Arg245Gln
XM_005252469.2:c.515G>A	XP_005252526.1:p.Arg172Gln
NM_001323080.1:c.434G>A	NP_001310009.1:p.Arg145Gln
NM_001323082.1:c.740G>A	NP_001310011.1:p.Arg247Gln
NM_001323083.1:c.470G>A	NP_001310012.1:p.Arg157Gln
NM_001323084.1:c.440G>A	NP_001310013.1:p.Arg147Gln
NM_006214.4:c.734G>A MANE Select	NP_006205.1:p.Arg245Gln
NM_001037537.2:c.434G>A	NP_001032626.1:p.Arg145Gln
NM_001323080.2:c.434G>A	NP_001310009.1:p.Arg145Gln
NM_001323082.2:c.740G>A	NP_001310011.1:p.Arg247Gln
NM_001323083.2:c.470G>A	NP_001310012.1:p.Arg157Gln
NM_001323084.2:c.440G>A	NP_001310013.1:p.Arg147Gln