Canonical Allele Identifier: CA2792651239
Gene: PHOX2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243700G>C , CM000673.2:g.72243700G>C GRCh38
NC_000011.9:g.71954744G>C , CM000673.1:g.71954744G>C GRCh37
NC_000011.8:g.71632392G>C NCBI36
NG_008169.1:g.5477C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+88C>G MANE Select ENSP00000298231.5:n.217+88C>G
ENST00000544057.1:n.85+1880C>G
NM_005169.3:c.217+88C>G NP_005160.2:n.217+88C>G
NM_005169.4:c.217+88C>G MANE Select NP_005160.2:n.217+88C>G
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