Canonical Allele Identifier: CA381747045
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243910-C-T
MyVariant Identifiers: chr11:g.71954954C>T (hg19) chr11:g.72243910C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243910C>T , CM000673.2:g.72243910C>T GRCh38
NC_000011.9:g.71954954C>T , CM000673.1:g.71954954C>T GRCh37
NC_000011.8:g.71632602C>T NCBI36
NG_008169.1:g.5267G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.95G>A MANE Select ENSP00000298231.5:p.Gly32Asp
ENST00000544057.1:n.85+1670G>A
NM_005169.3:c.95G>A NP_005160.2:p.Gly32Asp
NM_005169.4:c.95G>A MANE Select NP_005160.2:p.Gly32Asp
Search 100 bp 5'
Search 100 bp 3'