Canonical Allele Identifier: CA5412312

Gene: PHYH

Linked Data

• ClinVar Variation Id: 299253
• ClinVar RCV Id: RCV000483319 ; RCV003243060 ; RCV000377458
• dbSNP Id: rs751660253
• ExAC: 10:13330464 C / T
• gnomAD v2: 10-13330464-C-T
• gnomAD v3: 10-13288464-C-T
• gnomAD v4: 10-13288464-C-T
• COSMIC: COSM683981
• MyVariant Identifiers: chr10:g.13330464C>T (hg19) ; chr10:g.13288464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13288464C>T , CM000672.2:g.13288464C>T	GRCh38
NC_000010.10:g.13330464C>T , CM000672.1:g.13330464C>T	GRCh37
NC_000010.9:g.13370470C>T	NCBI36
NG_012862.1:g.16667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.574G>A MANE Select	ENSP00000263038.4:p.Ala192Thr
ENST00000263038.8:c.574G>A	ENSP00000263038.4:p.Ala192Thr
ENST00000396913.6:c.274G>A	ENSP00000380121.2:p.Ala92Thr
ENST00000396920.7:c.523G>A	ENSP00000380126.3:p.Ala175Thr
ENST00000453759.6:c.274G>A	ENSP00000412525.2:p.Ala92Thr
ENST00000479604.1:c.580G>A	ENSP00000420117.1:p.Ala194Thr
NM_001037537.1:c.274G>A	NP_001032626.1:p.Ala92Thr
NM_006214.3:c.574G>A	NP_006205.1:p.Ala192Thr
XM_005252469.2:c.460-4625G>A	XP_005252526.1:n.460-4625G>A
NM_001323080.1:c.274G>A	NP_001310009.1:p.Ala92Thr
NM_001323082.1:c.580G>A	NP_001310011.1:p.Ala194Thr
NM_001323083.1:c.415-4625G>A	NP_001310012.1:n.415-4625G>A
NM_001323084.1:c.280G>A	NP_001310013.1:p.Ala94Thr
NM_006214.4:c.574G>A MANE Select	NP_006205.1:p.Ala192Thr
NM_001037537.2:c.274G>A	NP_001032626.1:p.Ala92Thr
NM_001323080.2:c.274G>A	NP_001310009.1:p.Ala92Thr
NM_001323082.2:c.580G>A	NP_001310011.1:p.Ala194Thr
NM_001323083.2:c.415-4625G>A	NP_001310012.1:n.415-4625G>A
NM_001323084.2:c.280G>A	NP_001310013.1:p.Ala94Thr