Canonical Allele Identifier: CA661899260

Gene: PHYH

Linked Data

• dbSNP Id: rs1365335786
• gnomAD v3: 10-13283968-C-T
• gnomAD v4: 10-13283968-C-T
• MyVariant Identifiers: chr10:g.13325968C>T (hg19) ; chr10:g.13283968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283968C>T , CM000672.2:g.13283968C>T	GRCh38
NC_000010.10:g.13325968C>T , CM000672.1:g.13325968C>T	GRCh37
NC_000010.9:g.13365974C>T	NCBI36
NG_012862.1:g.21163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.679-129G>A MANE Select	ENSP00000263038.4:n.679-129G>A
ENST00000263038.8:c.679-129G>A	ENSP00000263038.4:n.679-129G>A
ENST00000396913.6:c.379-129G>A	ENSP00000380121.2:n.379-129G>A
ENST00000396920.7:c.628-129G>A	ENSP00000380126.3:n.628-129G>A
ENST00000453759.6:c.379-129G>A	ENSP00000412525.2:n.379-129G>A
NM_001037537.1:c.379-129G>A	NP_001032626.1:n.379-129G>A
NM_006214.3:c.679-129G>A	NP_006205.1:n.679-129G>A
XM_005252469.2:c.460-129G>A	XP_005252526.1:n.460-129G>A
NM_001323080.1:c.379-129G>A	NP_001310009.1:n.379-129G>A
NM_001323082.1:c.685-129G>A	NP_001310011.1:n.685-129G>A
NM_001323083.1:c.415-129G>A	NP_001310012.1:n.415-129G>A
NM_001323084.1:c.385-129G>A	NP_001310013.1:n.385-129G>A
NM_006214.4:c.679-129G>A MANE Select	NP_006205.1:n.679-129G>A
NM_001037537.2:c.379-129G>A	NP_001032626.1:n.379-129G>A
NM_001323080.2:c.379-129G>A	NP_001310009.1:n.379-129G>A
NM_001323082.2:c.685-129G>A	NP_001310011.1:n.685-129G>A
NM_001323083.2:c.415-129G>A	NP_001310012.1:n.415-129G>A
NM_001323084.2:c.385-129G>A	NP_001310013.1:n.385-129G>A