Canonical Allele Identifier: CA376034033
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283688A>G , CM000672.2:g.13283688A>G GRCh38
NC_000010.10:g.13325688A>G , CM000672.1:g.13325688A>G GRCh37
NC_000010.9:g.13365694A>G NCBI36
NG_012862.1:g.21443T>C

Transcript Alleles

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