Canonical Allele Identifier: CA475598331
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243930-G-T
MyVariant Identifiers: chr11:g.71954974G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243930G>T , CM000673.2:g.72243930G>T GRCh38
NC_000011.9:g.71954974G>T , CM000673.1:g.71954974G>T GRCh37
NC_000011.8:g.71632622G>T NCBI36
NG_008169.1:g.5247C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.75C>A MANE Select ENSP00000298231.5:p.Gly25=
ENST00000544057.1:n.85+1650C>A
NM_005169.3:c.75C>A NP_005160.2:p.Gly25=
NM_005169.4:c.75C>A MANE Select NP_005160.2:p.Gly25=
Search 100 bp 5'
Search 100 bp 3'