Canonical Allele Identifier: CA381747273
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243931-C-A
MyVariant Identifiers: chr11:g.71954975C>A (hg19) chr11:g.72243931C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243931C>A , CM000673.2:g.72243931C>A GRCh38
NC_000011.9:g.71954975C>A , CM000673.1:g.71954975C>A GRCh37
NC_000011.8:g.71632623C>A NCBI36
NG_008169.1:g.5246G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.74G>T MANE Select ENSP00000298231.5:p.Gly25Val
ENST00000544057.1:n.85+1649G>T
NM_005169.3:c.74G>T NP_005160.2:p.Gly25Val
NM_005169.4:c.74G>T MANE Select NP_005160.2:p.Gly25Val
Search 100 bp 5'
Search 100 bp 3'