Canonical Allele Identifier: CA3176256944
Community Standard Title: NM_006214.4(PHYH):c.780T= (p.Pro260=)
Gene: PHYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283738A= , CM000672.2:g.13283738A= GRCh38
NC_000010.10:g.13325738A= , CM000672.1:g.13325738A= GRCh37
NC_000010.9:g.13365744A= NCBI36
NG_012862.1:g.21393T=

Transcript Alleles

HGVS Amino-acid Change
NM_006214.4:c.780T= MANE Select NP_006205.1:p.Pro260=
ENST00000263038.9:c.780T= MANE Select ENSP00000263038.4:p.Pro260=
NM_001037537.1:c.480T= NP_001032626.1:p.Pro160=
NM_001037537.2:c.480T= NP_001032626.1:p.Pro160=
NM_001323080.1:c.480T= NP_001310009.1:p.Pro160=
NM_001323080.2:c.480T= NP_001310009.1:p.Pro160=
NM_001323082.1:c.786T= NP_001310011.1:p.Pro262=
NM_001323082.2:c.786T= NP_001310011.1:p.Pro262=
NM_001323083.1:c.516T= NP_001310012.1:p.Pro172=
NM_001323083.2:c.516T= NP_001310012.1:p.Pro172=
NM_001323084.1:c.486T= NP_001310013.1:p.Pro162=
NM_001323084.2:c.486T= NP_001310013.1:p.Pro162=
NM_006214.3:c.780T= NP_006205.1:p.Pro260=
ENST00000263038.8:c.780T= ENSP00000263038.4:p.Pro260=
ENST00000396913.6:c.480T= ENSP00000380121.2:p.Pro160=
ENST00000396920.7:c.729T= ENSP00000380126.3:p.Pro243=
ENST00000453759.6:c.480T= ENSP00000412525.2:p.Pro160=
XM_005252469.2:c.561T= XP_005252526.1:p.Pro187=