Canonical Allele Identifier: CA1981904786
Gene: PHOX2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243848C= , CM000673.2:g.72243848C= GRCh38
NC_000011.9:g.71954892C= , CM000673.1:g.71954892C= GRCh37
NC_000011.8:g.71632540C= NCBI36
NG_008169.1:g.5329G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.157G= MANE Select ENSP00000298231.5:p.Gly53=
ENST00000544057.1:n.85+1732G=
NM_005169.3:c.157G= NP_005160.2:p.Gly53=
NM_005169.4:c.157G= MANE Select NP_005160.2:p.Gly53=