Canonical Allele Identifier: CA203276257

Gene: PHYH

Linked Data

• dbSNP Id: rs934688734
• gnomAD v4: 10-13283739-G-A
• MyVariant Identifiers: chr10:g.13325739G>A (hg19) ; chr10:g.13283739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283739G>A , CM000672.2:g.13283739G>A	GRCh38
NC_000010.10:g.13325739G>A , CM000672.1:g.13325739G>A	GRCh37
NC_000010.9:g.13365745G>A	NCBI36
NG_012862.1:g.21392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.779C>T MANE Select	ENSP00000263038.4:p.Pro260Leu
ENST00000263038.8:c.779C>T	ENSP00000263038.4:p.Pro260Leu
ENST00000396913.6:c.479C>T	ENSP00000380121.2:p.Pro160Leu
ENST00000396920.7:c.728C>T	ENSP00000380126.3:p.Pro243Leu
ENST00000453759.6:c.479C>T	ENSP00000412525.2:p.Pro160Leu
NM_001037537.1:c.479C>T	NP_001032626.1:p.Pro160Leu
NM_006214.3:c.779C>T	NP_006205.1:p.Pro260Leu
XM_005252469.2:c.560C>T	XP_005252526.1:p.Pro187Leu
NM_001323080.1:c.479C>T	NP_001310009.1:p.Pro160Leu
NM_001323082.1:c.785C>T	NP_001310011.1:p.Pro262Leu
NM_001323083.1:c.515C>T	NP_001310012.1:p.Pro172Leu
NM_001323084.1:c.485C>T	NP_001310013.1:p.Pro162Leu
NM_006214.4:c.779C>T MANE Select	NP_006205.1:p.Pro260Leu
NM_001037537.2:c.479C>T	NP_001032626.1:p.Pro160Leu
NM_001323080.2:c.479C>T	NP_001310009.1:p.Pro160Leu
NM_001323082.2:c.785C>T	NP_001310011.1:p.Pro262Leu
NM_001323083.2:c.515C>T	NP_001310012.1:p.Pro172Leu
NM_001323084.2:c.485C>T	NP_001310013.1:p.Pro162Leu