Canonical Allele Identifier: CA381746905
Gene: PHOX2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243890G>C , CM000673.2:g.72243890G>C GRCh38
NC_000011.9:g.71954934G>C , CM000673.1:g.71954934G>C GRCh37
NC_000011.8:g.71632582G>C NCBI36
NG_008169.1:g.5287C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.115C>G MANE Select ENSP00000298231.5:p.Arg39Gly
ENST00000544057.1:n.85+1690C>G
NM_005169.3:c.115C>G NP_005160.2:p.Arg39Gly
NM_005169.4:c.115C>G MANE Select NP_005160.2:p.Arg39Gly