Canonical Allele Identifier: CA381746676
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243859-C-T
MyVariant Identifiers: chr11:g.71954903C>T (hg19) chr11:g.72243859C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243859C>T , CM000673.2:g.72243859C>T GRCh38
NC_000011.9:g.71954903C>T , CM000673.1:g.71954903C>T GRCh37
NC_000011.8:g.71632551C>T NCBI36
NG_008169.1:g.5318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.146G>A MANE Select ENSP00000298231.5:p.Cys49Tyr
ENST00000544057.1:n.85+1721G>A
NM_005169.3:c.146G>A NP_005160.2:p.Cys49Tyr
NM_005169.4:c.146G>A MANE Select NP_005160.2:p.Cys49Tyr
Search 100 bp 5'
Search 100 bp 3'