Canonical Allele Identifier: CA592080989

Gene: PHYH

Linked Data

• dbSNP Id: rs1435939238
• gnomAD v2: 10-13325364-C-CAA
• gnomAD v3: 10-13283364-C-CAA
• gnomAD v4: 10-13283364-C-CAA
• MyVariant Identifiers: chr10:g.13325364_13325365insAA (hg19) ; chr10:g.13283364_13283365insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283364_13283365insAA , CM000672.2:g.13283364_13283365insAA	GRCh38
NC_000010.10:g.13325364_13325365insAA , CM000672.1:g.13325364_13325365insAA	GRCh37
NC_000010.9:g.13365370_13365371insAA	NCBI36
NG_012862.1:g.21766_21767insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.828+325_828+326insTT MANE Select	ENSP00000263038.4:n.828+325_828+326insTT
ENST00000263038.8:c.828+325_828+326insTT	ENSP00000263038.4:n.828+325_828+326insTT
ENST00000396913.6:c.528+325_528+326insTT	ENSP00000380121.2:n.528+325_528+326insTT
ENST00000396920.7:c.777+325_777+326insTT	ENSP00000380126.3:n.777+325_777+326insTT
NM_001037537.1:c.528+325_528+326insTT	NP_001032626.1:n.528+325_528+326insTT
NM_006214.3:c.828+325_828+326insTT	NP_006205.1:n.828+325_828+326insTT
XM_005252469.2:c.609+325_609+326insTT	XP_005252526.1:n.609+325_609+326insTT
NM_001323080.1:c.528+325_528+326insTT	NP_001310009.1:n.528+325_528+326insTT
NM_001323082.1:c.834+325_834+326insTT	NP_001310011.1:n.834+325_834+326insTT
NM_001323083.1:c.564+325_564+326insTT	NP_001310012.1:n.564+325_564+326insTT
NM_001323084.1:c.534+325_534+326insTT	NP_001310013.1:n.534+325_534+326insTT
NM_006214.4:c.828+325_828+326insTT MANE Select	NP_006205.1:n.828+325_828+326insTT
NM_001037537.2:c.528+325_528+326insTT	NP_001032626.1:n.528+325_528+326insTT
NM_001323080.2:c.528+325_528+326insTT	NP_001310009.1:n.528+325_528+326insTT
NM_001323082.2:c.834+325_834+326insTT	NP_001310011.1:n.834+325_834+326insTT
NM_001323083.2:c.564+325_564+326insTT	NP_001310012.1:n.564+325_564+326insTT
NM_001323084.2:c.534+325_534+326insTT	NP_001310013.1:n.534+325_534+326insTT