Canonical Allele Identifier: CA381747967
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs2135458200
gnomAD v4: 11-72243950-A-G
MyVariant Identifiers: chr11:g.71954994A>G (hg19) chr11:g.72243950A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243950A>G , CM000673.2:g.72243950A>G GRCh38
NC_000011.9:g.71954994A>G , CM000673.1:g.71954994A>G GRCh37
NC_000011.8:g.71632642A>G NCBI36
NG_008169.1:g.5227T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.55T>C MANE Select ENSP00000298231.5:p.Ser19Pro
ENST00000544057.1:n.85+1630T>C
NM_005169.3:c.55T>C NP_005160.2:p.Ser19Pro
NM_005169.4:c.55T>C MANE Select NP_005160.2:p.Ser19Pro
Search 100 bp 5'
Search 100 bp 3'