Canonical Allele Identifier: CA224385781
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1043649533
gnomAD v3: 11-72243725-T-G
gnomAD v4: 11-72243725-T-G
MyVariant Identifiers: chr11:g.71954769T>G (hg19) chr11:g.72243725T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243725T>G , CM000673.2:g.72243725T>G GRCh38
NC_000011.9:g.71954769T>G , CM000673.1:g.71954769T>G GRCh37
NC_000011.8:g.71632417T>G NCBI36
NG_008169.1:g.5452A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+63A>C MANE Select ENSP00000298231.5:n.217+63A>C
ENST00000544057.1:n.85+1855A>C
NM_005169.3:c.217+63A>C NP_005160.2:n.217+63A>C
NM_005169.4:c.217+63A>C MANE Select NP_005160.2:n.217+63A>C
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