Canonical Allele Identifier: CA381747005
Gene: PHOX2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.71954947T>A (hg19) chr11:g.72243903T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243903T>A , CM000673.2:g.72243903T>A GRCh38
NC_000011.9:g.71954947T>A , CM000673.1:g.71954947T>A GRCh37
NC_000011.8:g.71632595T>A NCBI36
NG_008169.1:g.5274A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.102A>T MANE Select ENSP00000298231.5:p.Gln34His
ENST00000544057.1:n.85+1677A>T
NM_005169.3:c.102A>T NP_005160.2:p.Gln34His
NM_005169.4:c.102A>T MANE Select NP_005160.2:p.Gln34His
Search 100 bp 5'
Search 100 bp 3'