Canonical Allele Identifier: CA1981904638
Gene: PHOX2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243557G= , CM000673.2:g.72243557G= GRCh38
NC_000011.9:g.71954601G= , CM000673.1:g.71954601G= GRCh37
NC_000011.8:g.71632249G= NCBI36
NG_008169.1:g.5620C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+231C= MANE Select ENSP00000298231.5:n.217+231C=
ENST00000544057.1:n.85+2023C=
NM_005169.3:c.217+231C= NP_005160.2:n.217+231C=
NM_005169.4:c.217+231C= MANE Select NP_005160.2:n.217+231C=