Canonical Allele Identifier: CA381746846
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs757314327
gnomAD v2: 11-71954925-A-G
gnomAD v3: 11-72243881-A-G
gnomAD v4: 11-72243881-A-G
MyVariant Identifiers: chr11:g.71954925A>G (hg19) chr11:g.72243881A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243881A>G , CM000673.2:g.72243881A>G GRCh38
NC_000011.9:g.71954925A>G , CM000673.1:g.71954925A>G GRCh37
NC_000011.8:g.71632573A>G NCBI36
NG_008169.1:g.5296T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.124T>C MANE Select ENSP00000298231.5:p.Phe42Leu
ENST00000544057.1:n.85+1699T>C
NM_005169.3:c.124T>C NP_005160.2:p.Phe42Leu
NM_005169.4:c.124T>C MANE Select NP_005160.2:p.Phe42Leu
Search 100 bp 5'
Search 100 bp 3'