Canonical Allele Identifier: CA224385746
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1052129984
gnomAD v2: 11-71954695-G-T
gnomAD v3: 11-72243651-G-T
gnomAD v4: 11-72243651-G-T
MyVariant Identifiers: chr11:g.71954695G>T (hg19) chr11:g.72243651G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243651G>T , CM000673.2:g.72243651G>T GRCh38
NC_000011.9:g.71954695G>T , CM000673.1:g.71954695G>T GRCh37
NC_000011.8:g.71632343G>T NCBI36
NG_008169.1:g.5526C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+137C>A MANE Select ENSP00000298231.5:n.217+137C>A
ENST00000544057.1:n.85+1929C>A
NM_005169.3:c.217+137C>A NP_005160.2:n.217+137C>A
NM_005169.4:c.217+137C>A MANE Select NP_005160.2:n.217+137C>A
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