Canonical Allele Identifier: CA203276209

Gene: PHYH

Linked Data

• ClinVar Variation Id: 1659895
• ClinVar RCV Id: RCV002181110
• dbSNP Id: rs750121492
• gnomAD v2: 10-13325671-C-A
• gnomAD v3: 10-13283671-C-A
• gnomAD v4: 10-13283671-C-A
• MyVariant Identifiers: chr10:g.13325671C>A (hg19) ; chr10:g.13283671C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283671C>A , CM000672.2:g.13283671C>A	GRCh38
NC_000010.10:g.13325671C>A , CM000672.1:g.13325671C>A	GRCh37
NC_000010.9:g.13365677C>A	NCBI36
NG_012862.1:g.21460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.828+19G>T MANE Select	ENSP00000263038.4:n.828+19G>T
ENST00000263038.8:c.828+19G>T	ENSP00000263038.4:n.828+19G>T
ENST00000396913.6:c.528+19G>T	ENSP00000380121.2:n.528+19G>T
ENST00000396920.7:c.777+19G>T	ENSP00000380126.3:n.777+19G>T
NM_001037537.1:c.528+19G>T	NP_001032626.1:n.528+19G>T
NM_006214.3:c.828+19G>T	NP_006205.1:n.828+19G>T
XM_005252469.2:c.609+19G>T	XP_005252526.1:n.609+19G>T
NM_001323080.1:c.528+19G>T	NP_001310009.1:n.528+19G>T
NM_001323082.1:c.834+19G>T	NP_001310011.1:n.834+19G>T
NM_001323083.1:c.564+19G>T	NP_001310012.1:n.564+19G>T
NM_001323084.1:c.534+19G>T	NP_001310013.1:n.534+19G>T
NM_006214.4:c.828+19G>T MANE Select	NP_006205.1:n.828+19G>T
NM_001037537.2:c.528+19G>T	NP_001032626.1:n.528+19G>T
NM_001323080.2:c.528+19G>T	NP_001310009.1:n.528+19G>T
NM_001323082.2:c.834+19G>T	NP_001310011.1:n.834+19G>T
NM_001323083.2:c.564+19G>T	NP_001310012.1:n.564+19G>T
NM_001323084.2:c.534+19G>T	NP_001310013.1:n.534+19G>T