Canonical Allele Identifier: CA1981904764
Gene: PHOX2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243792C= , CM000673.2:g.72243792C= GRCh38
NC_000011.9:g.71954836C= , CM000673.1:g.71954836C= GRCh37
NC_000011.8:g.71632484C= NCBI36
NG_008169.1:g.5385G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.213G= MANE Select ENSP00000298231.5:p.Ser71=
ENST00000544057.1:n.85+1788G=
NM_005169.3:c.213G= NP_005160.2:p.Ser71=
NM_005169.4:c.213G= MANE Select NP_005160.2:p.Ser71=