Canonical Allele Identifier: CA475598206
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243798-G-T
MyVariant Identifiers: chr11:g.71954842G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243798G>T , CM000673.2:g.72243798G>T GRCh38
NC_000011.9:g.71954842G>T , CM000673.1:g.71954842G>T GRCh37
NC_000011.8:g.71632490G>T NCBI36
NG_008169.1:g.5379C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.207C>A MANE Select ENSP00000298231.5:p.Pro69=
ENST00000544057.1:n.85+1782C>A
NM_005169.3:c.207C>A NP_005160.2:p.Pro69=
NM_005169.4:c.207C>A MANE Select NP_005160.2:p.Pro69=
Search 100 bp 5'
Search 100 bp 3'