Canonical Allele Identifier: CA381747220
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1387578668
gnomAD v2: 11-71954970-A-G
gnomAD v4: 11-72243926-A-G
MyVariant Identifiers: chr11:g.71954970A>G (hg19) chr11:g.72243926A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243926A>G , CM000673.2:g.72243926A>G GRCh38
NC_000011.9:g.71954970A>G , CM000673.1:g.71954970A>G GRCh37
NC_000011.8:g.71632618A>G NCBI36
NG_008169.1:g.5251T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.79T>C MANE Select ENSP00000298231.5:p.Cys27Arg
ENST00000544057.1:n.85+1654T>C
NM_005169.3:c.79T>C NP_005160.2:p.Cys27Arg
NM_005169.4:c.79T>C MANE Select NP_005160.2:p.Cys27Arg
Search 100 bp 5'
Search 100 bp 3'