Canonical Allele Identifier: CA376034145

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325740G>C (hg19) ; chr10:g.13283740G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283740G>C , CM000672.2:g.13283740G>C	GRCh38
NC_000010.10:g.13325740G>C , CM000672.1:g.13325740G>C	GRCh37
NC_000010.9:g.13365746G>C	NCBI36
NG_012862.1:g.21391C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.778C>G MANE Select	ENSP00000263038.4:p.Pro260Ala
ENST00000263038.8:c.778C>G	ENSP00000263038.4:p.Pro260Ala
ENST00000396913.6:c.478C>G	ENSP00000380121.2:p.Pro160Ala
ENST00000396920.7:c.727C>G	ENSP00000380126.3:p.Pro243Ala
ENST00000453759.6:c.478C>G	ENSP00000412525.2:p.Pro160Ala
NM_001037537.1:c.478C>G	NP_001032626.1:p.Pro160Ala
NM_006214.3:c.778C>G	NP_006205.1:p.Pro260Ala
XM_005252469.2:c.559C>G	XP_005252526.1:p.Pro187Ala
NM_001323080.1:c.478C>G	NP_001310009.1:p.Pro160Ala
NM_001323082.1:c.784C>G	NP_001310011.1:p.Pro262Ala
NM_001323083.1:c.514C>G	NP_001310012.1:p.Pro172Ala
NM_001323084.1:c.484C>G	NP_001310013.1:p.Pro162Ala
NM_006214.4:c.778C>G MANE Select	NP_006205.1:p.Pro260Ala
NM_001037537.2:c.478C>G	NP_001032626.1:p.Pro160Ala
NM_001323080.2:c.478C>G	NP_001310009.1:p.Pro160Ala
NM_001323082.2:c.784C>G	NP_001310011.1:p.Pro262Ala
NM_001323083.2:c.514C>G	NP_001310012.1:p.Pro172Ala
NM_001323084.2:c.484C>G	NP_001310013.1:p.Pro162Ala