Canonical Allele Identifier: CA381746513
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243836-A-C
MyVariant Identifiers: chr11:g.71954880A>C (hg19) chr11:g.72243836A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243836A>C , CM000673.2:g.72243836A>C GRCh38
NC_000011.9:g.71954880A>C , CM000673.1:g.71954880A>C GRCh37
NC_000011.8:g.71632528A>C NCBI36
NG_008169.1:g.5341T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.169T>G MANE Select ENSP00000298231.5:p.Cys57Gly
ENST00000544057.1:n.85+1744T>G
NM_005169.3:c.169T>G NP_005160.2:p.Cys57Gly
NM_005169.4:c.169T>G MANE Select NP_005160.2:p.Cys57Gly
Search 100 bp 5'
Search 100 bp 3'