Canonical Allele Identifier: CA381746145
Gene: PHOX2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243796T>G , CM000673.2:g.72243796T>G GRCh38
NC_000011.9:g.71954840T>G , CM000673.1:g.71954840T>G GRCh37
NC_000011.8:g.71632488T>G NCBI36
NG_008169.1:g.5381A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.209A>C MANE Select ENSP00000298231.5:p.Tyr70Ser
ENST00000544057.1:n.85+1784A>C
NM_005169.3:c.209A>C NP_005160.2:p.Tyr70Ser
NM_005169.4:c.209A>C MANE Select NP_005160.2:p.Tyr70Ser