Canonical Allele Identifier: CA1981904721
Gene: PHOX2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243699G= , CM000673.2:g.72243699G= GRCh38
NC_000011.9:g.71954743G= , CM000673.1:g.71954743G= GRCh37
NC_000011.8:g.71632391G= NCBI36
NG_008169.1:g.5478C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+89C= MANE Select ENSP00000298231.5:n.217+89C=
ENST00000544057.1:n.85+1881C=
NM_005169.3:c.217+89C= NP_005160.2:n.217+89C=
NM_005169.4:c.217+89C= MANE Select NP_005160.2:n.217+89C=