Canonical Allele Identifier: CA5412178

Gene: PHYH

Linked Data

• ClinVar Variation Id: 299244
• ClinVar RCV Id: RCV000314971 ; RCV000883928 ; RCV003950006
• dbSNP Id: rs367851769
• ExAC: 10:13320338 C / T
• gnomAD v2: 10-13320338-C-T
• gnomAD v3: 10-13278338-C-T
• gnomAD v4: 10-13278338-C-T
• MyVariant Identifiers: chr10:g.13320338C>T (hg19) ; chr10:g.13278338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13278338C>T , CM000672.2:g.13278338C>T	GRCh38
NC_000010.10:g.13320338C>T , CM000672.1:g.13320338C>T	GRCh37
NC_000010.9:g.13360344C>T	NCBI36
NG_012862.1:g.26793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.980G>A MANE Select	ENSP00000263038.4:p.Arg327Gln
ENST00000263038.8:c.980G>A	ENSP00000263038.4:p.Arg327Gln
ENST00000396913.6:c.680G>A	ENSP00000380121.2:p.Arg227Gln
ENST00000396920.7:c.929G>A	ENSP00000380126.3:p.Arg310Gln
NM_001037537.1:c.680G>A	NP_001032626.1:p.Arg227Gln
NM_006214.3:c.980G>A	NP_006205.1:p.Arg327Gln
XM_005252469.2:c.761G>A	XP_005252526.1:p.Arg254Gln
NM_001323080.1:c.680G>A	NP_001310009.1:p.Arg227Gln
NM_001323082.1:c.986G>A	NP_001310011.1:p.Arg329Gln
NM_001323083.1:c.716G>A	NP_001310012.1:p.Arg239Gln
NM_001323084.1:c.686G>A	NP_001310013.1:p.Arg229Gln
NM_006214.4:c.980G>A MANE Select	NP_006205.1:p.Arg327Gln
NM_001037537.2:c.680G>A	NP_001032626.1:p.Arg227Gln
NM_001323080.2:c.680G>A	NP_001310009.1:p.Arg227Gln
NM_001323082.2:c.986G>A	NP_001310011.1:p.Arg329Gln
NM_001323083.2:c.716G>A	NP_001310012.1:p.Arg239Gln
NM_001323084.2:c.686G>A	NP_001310013.1:p.Arg229Gln