Canonical Allele Identifier: CA2614940111
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243745-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243745T>C , CM000673.2:g.72243745T>C GRCh38
NC_000011.9:g.71954789T>C , CM000673.1:g.71954789T>C GRCh37
NC_000011.8:g.71632437T>C NCBI36
NG_008169.1:g.5432A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+43A>G MANE Select ENSP00000298231.5:n.217+43A>G
ENST00000544057.1:n.85+1835A>G
NM_005169.3:c.217+43A>G NP_005160.2:n.217+43A>G
NM_005169.4:c.217+43A>G MANE Select NP_005160.2:n.217+43A>G
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