Canonical Allele Identifier: CA381747047
Gene: PHOX2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.71954955C>G (hg19) chr11:g.72243911C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243911C>G , CM000673.2:g.72243911C>G GRCh38
NC_000011.9:g.71954955C>G , CM000673.1:g.71954955C>G GRCh37
NC_000011.8:g.71632603C>G NCBI36
NG_008169.1:g.5266G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.94G>C MANE Select ENSP00000298231.5:p.Gly32Arg
ENST00000544057.1:n.85+1669G>C
NM_005169.3:c.94G>C NP_005160.2:p.Gly32Arg
NM_005169.4:c.94G>C MANE Select NP_005160.2:p.Gly32Arg
Search 100 bp 5'
Search 100 bp 3'