Canonical Allele Identifier: CA5412281

Gene: PHYH

Linked Data

• ClinVar Variation Id: 299248
• ClinVar RCV Id: RCV000366000 ; RCV001523657 ; RCV001699432
• dbSNP Id: rs140995522
• ExAC: 10:13330345 G / A
• gnomAD v2: 10-13330345-G-A
• gnomAD v3: 10-13288345-G-A
• gnomAD v4: 10-13288345-G-A
• MyVariant Identifiers: chr10:g.13330345G>A (hg19) ; chr10:g.13288345G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288345G>A , CM000672.2:g.13288345G>A	GRCh38
NC_000010.10:g.13330345G>A , CM000672.1:g.13330345G>A	GRCh37
NC_000010.9:g.13370351G>A	NCBI36
NG_012862.1:g.16786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.678+15C>T MANE Select	ENSP00000263038.4:n.678+15C>T
ENST00000263038.8:c.678+15C>T	ENSP00000263038.4:n.678+15C>T
ENST00000396913.6:c.378+15C>T	ENSP00000380121.2:n.378+15C>T
ENST00000396920.7:c.627+15C>T	ENSP00000380126.3:n.627+15C>T
ENST00000453759.6:c.378+15C>T	ENSP00000412525.2:n.378+15C>T
NM_001037537.1:c.378+15C>T	NP_001032626.1:n.378+15C>T
NM_006214.3:c.678+15C>T	NP_006205.1:n.678+15C>T
XM_005252469.2:c.460-4506C>T	XP_005252526.1:n.460-4506C>T
NM_001323080.1:c.378+15C>T	NP_001310009.1:n.378+15C>T
NM_001323082.1:c.684+15C>T	NP_001310011.1:n.684+15C>T
NM_001323083.1:c.415-4506C>T	NP_001310012.1:n.415-4506C>T
NM_001323084.1:c.384+15C>T	NP_001310013.1:n.384+15C>T
NM_006214.4:c.678+15C>T MANE Select	NP_006205.1:n.678+15C>T
NM_001037537.2:c.378+15C>T	NP_001032626.1:n.378+15C>T
NM_001323080.2:c.378+15C>T	NP_001310009.1:n.378+15C>T
NM_001323082.2:c.684+15C>T	NP_001310011.1:n.684+15C>T
NM_001323083.2:c.415-4506C>T	NP_001310012.1:n.415-4506C>T
NM_001323084.2:c.384+15C>T	NP_001310013.1:n.384+15C>T