Canonical Allele Identifier: CA381746915
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243892-A-T
MyVariant Identifiers: chr11:g.71954936A>T (hg19) chr11:g.72243892A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243892A>T , CM000673.2:g.72243892A>T GRCh38
NC_000011.9:g.71954936A>T , CM000673.1:g.71954936A>T GRCh37
NC_000011.8:g.71632584A>T NCBI36
NG_008169.1:g.5285T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.113T>A MANE Select ENSP00000298231.5:p.Leu38Gln
ENST00000544057.1:n.85+1688T>A
NM_005169.3:c.113T>A NP_005160.2:p.Leu38Gln
NM_005169.4:c.113T>A MANE Select NP_005160.2:p.Leu38Gln
Search 100 bp 5'
Search 100 bp 3'