Canonical Allele Identifier: CA16605832
Gene: PHYH HGNC NCBI

Linked Data

ClinVar Variation Id: 379919
ClinVar RCV Id: RCV000443182
dbSNP Id: rs1057520786
MyVariant Identifiers: chr10:g.13323099G>T (hg19) chr10:g.13281099G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13281099G>T , CM000672.2:g.13281099G>T GRCh38
NC_000010.10:g.13323099G>T , CM000672.1:g.13323099G>T GRCh37
NC_000010.9:g.13363105G>T NCBI36
NG_012862.1:g.24032C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263038.9:c.840C>A MANE Select ENSP00000263038.4:p.Cys280Ter
ENST00000263038.8:c.840C>A ENSP00000263038.4:p.Cys280Ter
ENST00000396913.6:c.540C>A ENSP00000380121.2:p.Cys180Ter
ENST00000396920.7:c.789C>A ENSP00000380126.3:p.Cys263Ter
NM_001037537.1:c.540C>A NP_001032626.1:p.Cys180Ter
NM_006214.3:c.840C>A NP_006205.1:p.Cys280Ter
XM_005252469.2:c.621C>A XP_005252526.1:p.Cys207Ter
NM_001323080.1:c.540C>A NP_001310009.1:p.Cys180Ter
NM_001323082.1:c.846C>A NP_001310011.1:p.Cys282Ter
NM_001323083.1:c.576C>A NP_001310012.1:p.Cys192Ter
NM_001323084.1:c.546C>A NP_001310013.1:p.Cys182Ter
NM_006214.4:c.840C>A MANE Select NP_006205.1:p.Cys280Ter
NM_001037537.2:c.540C>A NP_001032626.1:p.Cys180Ter
NM_001323080.2:c.540C>A NP_001310009.1:p.Cys180Ter
NM_001323082.2:c.846C>A NP_001310011.1:p.Cys282Ter
NM_001323083.2:c.576C>A NP_001310012.1:p.Cys192Ter
NM_001323084.2:c.546C>A NP_001310013.1:p.Cys182Ter
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