Canonical Allele Identifier: CA1981904686
Gene: PHOX2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243634G= , CM000673.2:g.72243634G= GRCh38
NC_000011.9:g.71954678G= , CM000673.1:g.71954678G= GRCh37
NC_000011.8:g.71632326G= NCBI36
NG_008169.1:g.5543C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+154C= MANE Select ENSP00000298231.5:n.217+154C=
ENST00000544057.1:n.85+1946C=
NM_005169.3:c.217+154C= NP_005160.2:n.217+154C=
NM_005169.4:c.217+154C= MANE Select NP_005160.2:n.217+154C=