Canonical Allele Identifier: CA381746788
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1949141247
gnomAD v4: 11-72243874-G-T
MyVariant Identifiers: chr11:g.71954918G>T (hg19) chr11:g.72243874G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243874G>T , CM000673.2:g.72243874G>T GRCh38
NC_000011.9:g.71954918G>T , CM000673.1:g.71954918G>T GRCh37
NC_000011.8:g.71632566G>T NCBI36
NG_008169.1:g.5303C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.131C>A MANE Select ENSP00000298231.5:p.Ala44Glu
ENST00000544057.1:n.85+1706C>A
NM_005169.3:c.131C>A NP_005160.2:p.Ala44Glu
NM_005169.4:c.131C>A MANE Select NP_005160.2:p.Ala44Glu
Search 100 bp 5'
Search 100 bp 3'