Canonical Allele Identifier: CA381747076
Gene: PHOX2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243913C>G , CM000673.2:g.72243913C>G GRCh38
NC_000011.9:g.71954957C>G , CM000673.1:g.71954957C>G GRCh37
NC_000011.8:g.71632605C>G NCBI36
NG_008169.1:g.5264G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.92G>C MANE Select ENSP00000298231.5:p.Gly31Ala
ENST00000544057.1:n.85+1667G>C
NM_005169.3:c.92G>C NP_005160.2:p.Gly31Ala
NM_005169.4:c.92G>C MANE Select NP_005160.2:p.Gly31Ala