Canonical Allele Identifier: CA5412165

Gene: PHYH

Linked Data

• ClinVar Variation Id: 299242
• ClinVar RCV Id: RCV000336005
• dbSNP Id: rs186628076
• ExAC: 10:13320279 A / C
• gnomAD v2: 10-13320279-A-C
• gnomAD v3: 10-13278279-A-C
• gnomAD v4: 10-13278279-A-C
• MyVariant Identifiers: chr10:g.13320279A>C (hg19) ; chr10:g.13278279A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13278279A>C , CM000672.2:g.13278279A>C	GRCh38
NC_000010.10:g.13320279A>C , CM000672.1:g.13320279A>C	GRCh37
NC_000010.9:g.13360285A>C	NCBI36
NG_012862.1:g.26852T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.*22T>G MANE Select	ENSP00000263038.4:n.*22T>G
ENST00000263038.8:c.*22T>G	ENSP00000263038.4:n.*22T>G
ENST00000396913.6:c.*22T>G	ENSP00000380121.2:n.*22T>G
ENST00000396920.7:c.*22T>G	ENSP00000380126.3:n.*22T>G
NM_001037537.1:c.*22T>G	NP_001032626.1:n.*22T>G
NM_006214.3:c.*22T>G	NP_006205.1:n.*22T>G
XM_005252469.2:c.*22T>G	XP_005252526.1:n.*22T>G
NM_001323080.1:c.*22T>G	NP_001310009.1:n.*22T>G
NM_001323082.1:c.*22T>G	NP_001310011.1:n.*22T>G
NM_001323083.1:c.*22T>G	NP_001310012.1:n.*22T>G
NM_001323084.1:c.*22T>G	NP_001310013.1:n.*22T>G
NM_006214.4:c.*22T>G MANE Select	NP_006205.1:n.*22T>G
NM_001037537.2:c.*22T>G	NP_001032626.1:n.*22T>G
NM_001323080.2:c.*22T>G	NP_001310009.1:n.*22T>G
NM_001323082.2:c.*22T>G	NP_001310011.1:n.*22T>G
NM_001323083.2:c.*22T>G	NP_001310012.1:n.*22T>G
NM_001323084.2:c.*22T>G	NP_001310013.1:n.*22T>G