Canonical Allele Identifier: CA376038111

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13340200G>C (hg19) ; chr10:g.13298200G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13298200G>C , CM000672.2:g.13298200G>C	GRCh38
NC_000010.10:g.13340200G>C , CM000672.1:g.13340200G>C	GRCh37
NC_000010.9:g.13380206G>C	NCBI36
NG_012862.1:g.6931C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.121C>G MANE Select	ENSP00000263038.4:p.Pro41Ala
ENST00000263038.8:c.121C>G	ENSP00000263038.4:p.Pro41Ala
ENST00000396913.6:c.-167+1220C>G	ENSP00000380121.2:n.-167+1220C>G
ENST00000396920.7:c.64C>G	ENSP00000380126.3:p.Pro22Ala
ENST00000453759.6:c.-180C>G	ENSP00000412525.2:n.-180C>G
ENST00000463730.1:n.176C>G
ENST00000479604.1:c.121C>G	ENSP00000420117.1:p.Pro41Ala
NM_001037537.1:c.-167+1220C>G	NP_001032626.1:n.-167+1220C>G
NM_006214.3:c.121C>G	NP_006205.1:p.Pro41Ala
XM_005252469.2:c.166C>G	XP_005252526.1:p.Pro56Ala
NM_001323080.1:c.-180C>G	NP_001310009.1:n.-180C>G
NM_001323082.1:c.121C>G	NP_001310011.1:p.Pro41Ala
NM_001323083.1:c.121C>G	NP_001310012.1:p.Pro41Ala
NM_001323084.1:c.-167+1220C>G	NP_001310013.1:n.-167+1220C>G
NM_006214.4:c.121C>G MANE Select	NP_006205.1:p.Pro41Ala
NM_001037537.2:c.-167+1220C>G	NP_001032626.1:n.-167+1220C>G
NM_001323080.2:c.-180C>G	NP_001310009.1:n.-180C>G
NM_001323082.2:c.121C>G	NP_001310011.1:p.Pro41Ala
NM_001323083.2:c.121C>G	NP_001310012.1:p.Pro41Ala
NM_001323084.2:c.-167+1220C>G	NP_001310013.1:n.-167+1220C>G