Canonical Allele Identifier: CA212871

Gene: PHYH

Linked Data

• ClinVar Variation Id: 7581
• ClinVar RCV Id: RCV000008019 ; RCV000599568 ; RCV000660487 ; RCV001723551 ; RCV003407301
• dbSNP Id: rs201578674
• ExAC: 10:13337608 T / C
• gnomAD v2: 10-13337608-T-C
• gnomAD v3: 10-13295608-T-C
• gnomAD v4: 10-13295608-T-C
• MyVariant Identifiers: chr10:g.13337608T>C (hg19) ; chr10:g.13295608T>C (hg38)
• PubMed: PMID:9326939 ; PMID:9326940 ; PMID:10767344

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13295608T>C , CM000672.2:g.13295608T>C	GRCh38
NC_000010.10:g.13337608T>C , CM000672.1:g.13337608T>C	GRCh37
NC_000010.9:g.13377614T>C	NCBI36
NG_012862.1:g.9523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.135-2A>G MANE Select	ENSP00000263038.4:n.135-2A>G
ENST00000263038.8:c.135-2A>G	ENSP00000263038.4:n.135-2A>G
ENST00000396913.6:c.-166-2A>G	ENSP00000380121.2:n.-166-2A>G
ENST00000396920.7:c.78-2A>G	ENSP00000380126.3:n.78-2A>G
ENST00000453759.6:c.-166-2A>G	ENSP00000412525.2:n.-166-2A>G
ENST00000463730.1:n.190-2A>G
ENST00000479604.1:c.135-2A>G	ENSP00000420117.1:n.135-2A>G
NM_001037537.1:c.-166-2A>G	NP_001032626.1:n.-166-2A>G
NM_006214.3:c.135-2A>G	NP_006205.1:n.135-2A>G
XM_005252469.2:c.180-2A>G	XP_005252526.1:n.180-2A>G
NM_001323080.1:c.-166-2A>G	NP_001310009.1:n.-166-2A>G
NM_001323082.1:c.135-2A>G	NP_001310011.1:n.135-2A>G
NM_001323083.1:c.135-2A>G	NP_001310012.1:n.135-2A>G
NM_001323084.1:c.-166-2A>G	NP_001310013.1:n.-166-2A>G
NM_006214.4:c.135-2A>G MANE Select	NP_006205.1:n.135-2A>G
NM_001037537.2:c.-166-2A>G	NP_001032626.1:n.-166-2A>G
NM_001323080.2:c.-166-2A>G	NP_001310009.1:n.-166-2A>G
NM_001323082.2:c.135-2A>G	NP_001310011.1:n.135-2A>G
NM_001323083.2:c.135-2A>G	NP_001310012.1:n.135-2A>G
NM_001323084.2:c.-166-2A>G	NP_001310013.1:n.-166-2A>G