Canonical Allele Identifier: CA6170934
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs757314327

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243881A>C , CM000673.2:g.72243881A>C GRCh38
NC_000011.9:g.71954925A>C , CM000673.1:g.71954925A>C GRCh37
NC_000011.8:g.71632573A>C NCBI36
NG_008169.1:g.5296T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.124T>G MANE Select ENSP00000298231.5:p.Phe42Val
ENST00000544057.1:n.85+1699T>G
NM_005169.3:c.124T>G NP_005160.2:p.Phe42Val
NM_005169.4:c.124T>G MANE Select NP_005160.2:p.Phe42Val