Canonical Allele Identifier: CA475598242
Gene: PHOX2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.71954872A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243828A>T , CM000673.2:g.72243828A>T GRCh38
NC_000011.9:g.71954872A>T , CM000673.1:g.71954872A>T GRCh37
NC_000011.8:g.71632520A>T NCBI36
NG_008169.1:g.5349T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.177T>A MANE Select ENSP00000298231.5:p.Leu59=
ENST00000544057.1:n.85+1752T>A
NM_005169.3:c.177T>A NP_005160.2:p.Leu59=
NM_005169.4:c.177T>A MANE Select NP_005160.2:p.Leu59=
Search 100 bp 5'
Search 100 bp 3'