Canonical Allele Identifier: CA203335706

Gene: PHYH

Linked Data

• dbSNP Id: rs917549245
• gnomAD v2: 10-13325600-T-G
• gnomAD v3: 10-13283600-T-G
• gnomAD v4: 10-13283600-T-G
• MyVariant Identifiers: chr10:g.13325600T>G (hg19) ; chr10:g.13283600T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283600T>G , CM000672.2:g.13283600T>G	GRCh38
NC_000010.10:g.13325600T>G , CM000672.1:g.13325600T>G	GRCh37
NC_000010.9:g.13365606T>G	NCBI36
NG_012862.1:g.21531A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.828+90A>C MANE Select	ENSP00000263038.4:n.828+90A>C
ENST00000263038.8:c.828+90A>C	ENSP00000263038.4:n.828+90A>C
ENST00000396913.6:c.528+90A>C	ENSP00000380121.2:n.528+90A>C
ENST00000396920.7:c.777+90A>C	ENSP00000380126.3:n.777+90A>C
NM_001037537.1:c.528+90A>C	NP_001032626.1:n.528+90A>C
NM_006214.3:c.828+90A>C	NP_006205.1:n.828+90A>C
XM_005252469.2:c.609+90A>C	XP_005252526.1:n.609+90A>C
NM_001323080.1:c.528+90A>C	NP_001310009.1:n.528+90A>C
NM_001323082.1:c.834+90A>C	NP_001310011.1:n.834+90A>C
NM_001323083.1:c.564+90A>C	NP_001310012.1:n.564+90A>C
NM_001323084.1:c.534+90A>C	NP_001310013.1:n.534+90A>C
NM_006214.4:c.828+90A>C MANE Select	NP_006205.1:n.828+90A>C
NM_001037537.2:c.528+90A>C	NP_001032626.1:n.528+90A>C
NM_001323080.2:c.528+90A>C	NP_001310009.1:n.528+90A>C
NM_001323082.2:c.834+90A>C	NP_001310011.1:n.834+90A>C
NM_001323083.2:c.564+90A>C	NP_001310012.1:n.564+90A>C
NM_001323084.2:c.534+90A>C	NP_001310013.1:n.534+90A>C