Canonical Allele Identifier: CA224385674
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1015778006
MyVariant Identifiers: chr11:g.71954601G>A (hg19) chr11:g.72243557G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243557G>A , CM000673.2:g.72243557G>A GRCh38
NC_000011.9:g.71954601G>A , CM000673.1:g.71954601G>A GRCh37
NC_000011.8:g.71632249G>A NCBI36
NG_008169.1:g.5620C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+231C>T MANE Select ENSP00000298231.5:n.217+231C>T
ENST00000544057.1:n.85+2023C>T
NM_005169.3:c.217+231C>T NP_005160.2:n.217+231C>T
NM_005169.4:c.217+231C>T MANE Select NP_005160.2:n.217+231C>T
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