Canonical Allele Identifier: CA2614940147
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243755-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243755T>G , CM000673.2:g.72243755T>G GRCh38
NC_000011.9:g.71954799T>G , CM000673.1:g.71954799T>G GRCh37
NC_000011.8:g.71632447T>G NCBI36
NG_008169.1:g.5422A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+33A>C MANE Select ENSP00000298231.5:n.217+33A>C
ENST00000544057.1:n.85+1825A>C
NM_005169.3:c.217+33A>C NP_005160.2:n.217+33A>C
NM_005169.4:c.217+33A>C MANE Select NP_005160.2:n.217+33A>C
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