Canonical Allele Identifier: CA381747162
Gene: PHOX2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243922C>G , CM000673.2:g.72243922C>G GRCh38
NC_000011.9:g.71954966C>G , CM000673.1:g.71954966C>G GRCh37
NC_000011.8:g.71632614C>G NCBI36
NG_008169.1:g.5255G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.83G>C MANE Select ENSP00000298231.5:p.Ser28Thr
ENST00000544057.1:n.85+1658G>C
NM_005169.3:c.83G>C NP_005160.2:p.Ser28Thr
NM_005169.4:c.83G>C MANE Select NP_005160.2:p.Ser28Thr