Canonical Allele Identifier: CA381747953
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs2135458197
gnomAD v4: 11-72243949-G-A
MyVariant Identifiers: chr11:g.71954993G>A (hg19) chr11:g.72243949G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243949G>A , CM000673.2:g.72243949G>A GRCh38
NC_000011.9:g.71954993G>A , CM000673.1:g.71954993G>A GRCh37
NC_000011.8:g.71632641G>A NCBI36
NG_008169.1:g.5228C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.56C>T MANE Select ENSP00000298231.5:p.Ser19Phe
ENST00000544057.1:n.85+1631C>T
NM_005169.3:c.56C>T NP_005160.2:p.Ser19Phe
NM_005169.4:c.56C>T MANE Select NP_005160.2:p.Ser19Phe
Search 100 bp 5'
Search 100 bp 3'