Canonical Allele Identifier: CA475598226
Gene: PHOX2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.71954863T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243819T>G , CM000673.2:g.72243819T>G GRCh38
NC_000011.9:g.71954863T>G , CM000673.1:g.71954863T>G GRCh37
NC_000011.8:g.71632511T>G NCBI36
NG_008169.1:g.5358A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.186A>C MANE Select ENSP00000298231.5:p.Leu62=
ENST00000544057.1:n.85+1761A>C
NM_005169.3:c.186A>C NP_005160.2:p.Leu62=
NM_005169.4:c.186A>C MANE Select NP_005160.2:p.Leu62=
Search 100 bp 5'
Search 100 bp 3'