Canonical Allele Identifier: CA381746717
Gene: PHOX2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.71954907G>C (hg19) chr11:g.72243863G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243863G>C , CM000673.2:g.72243863G>C GRCh38
NC_000011.9:g.71954907G>C , CM000673.1:g.71954907G>C GRCh37
NC_000011.8:g.71632555G>C NCBI36
NG_008169.1:g.5314C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.142C>G MANE Select ENSP00000298231.5:p.Pro48Ala
ENST00000544057.1:n.85+1717C>G
NM_005169.3:c.142C>G NP_005160.2:p.Pro48Ala
NM_005169.4:c.142C>G MANE Select NP_005160.2:p.Pro48Ala
Search 100 bp 5'
Search 100 bp 3'