Canonical Allele Identifier: CA1981904771
Gene: PHOX2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243812G= , CM000673.2:g.72243812G= GRCh38
NC_000011.9:g.71954856G= , CM000673.1:g.71954856G= GRCh37
NC_000011.8:g.71632504G= NCBI36
NG_008169.1:g.5365C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.193C= MANE Select ENSP00000298231.5:p.His65=
ENST00000544057.1:n.85+1768C=
NM_005169.3:c.193C= NP_005160.2:p.His65=
NM_005169.4:c.193C= MANE Select NP_005160.2:p.His65=
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