Canonical Allele Identifier: CA10628212

Gene: PHYH

Linked Data

• ClinVar Variation Id: 299240
• ClinVar RCV Id: RCV000375474 ; RCV001642923
• dbSNP Id: rs11133
• gnomAD v2: 10-13320236-C-T
• gnomAD v3: 10-13278236-C-T
• gnomAD v4: 10-13278236-C-T
• MyVariant Identifiers: chr10:g.13320236C>T (hg19) ; chr10:g.13278236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13278236C>T , CM000672.2:g.13278236C>T	GRCh38
NC_000010.10:g.13320236C>T , CM000672.1:g.13320236C>T	GRCh37
NC_000010.9:g.13360242C>T	NCBI36
NG_012862.1:g.26895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.*65G>A MANE Select	ENSP00000263038.4:n.*65G>A
ENST00000263038.8:c.*65G>A	ENSP00000263038.4:n.*65G>A
ENST00000396913.6:c.*65G>A	ENSP00000380121.2:n.*65G>A
ENST00000396920.7:c.*65G>A	ENSP00000380126.3:n.*65G>A
NM_001037537.1:c.*65G>A	NP_001032626.1:n.*65G>A
NM_006214.3:c.*65G>A	NP_006205.1:n.*65G>A
XM_005252469.2:c.*65G>A	XP_005252526.1:n.*65G>A
NM_001323080.1:c.*65G>A	NP_001310009.1:n.*65G>A
NM_001323082.1:c.*65G>A	NP_001310011.1:n.*65G>A
NM_001323083.1:c.*65G>A	NP_001310012.1:n.*65G>A
NM_001323084.1:c.*65G>A	NP_001310013.1:n.*65G>A
NM_006214.4:c.*65G>A MANE Select	NP_006205.1:n.*65G>A
NM_001037537.2:c.*65G>A	NP_001032626.1:n.*65G>A
NM_001323080.2:c.*65G>A	NP_001310009.1:n.*65G>A
NM_001323082.2:c.*65G>A	NP_001310011.1:n.*65G>A
NM_001323083.2:c.*65G>A	NP_001310012.1:n.*65G>A
NM_001323084.2:c.*65G>A	NP_001310013.1:n.*65G>A