Canonical Allele Identifier: CA475598244
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243831-T-C
MyVariant Identifiers: chr11:g.71954875T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243831T>C , CM000673.2:g.72243831T>C GRCh38
NC_000011.9:g.71954875T>C , CM000673.1:g.71954875T>C GRCh37
NC_000011.8:g.71632523T>C NCBI36
NG_008169.1:g.5346A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.174A>G MANE Select ENSP00000298231.5:p.Ala58=
ENST00000544057.1:n.85+1749A>G
NM_005169.3:c.174A>G NP_005160.2:p.Ala58=
NM_005169.4:c.174A>G MANE Select NP_005160.2:p.Ala58=
Search 100 bp 5'
Search 100 bp 3'