Canonical Allele Identifier: CA475598194
Gene: PHOX2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.71954833T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243789T>G , CM000673.2:g.72243789T>G GRCh38
NC_000011.9:g.71954833T>G , CM000673.1:g.71954833T>G GRCh37
NC_000011.8:g.71632481T>G NCBI36
NG_008169.1:g.5388A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.216A>C MANE Select ENSP00000298231.5:p.Ala72=
ENST00000544057.1:n.85+1791A>C
NM_005169.3:c.216A>C NP_005160.2:p.Ala72=
NM_005169.4:c.216A>C MANE Select NP_005160.2:p.Ala72=