Canonical Allele Identifier: CA475598263
Gene: PHOX2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.71954890G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243846G>C , CM000673.2:g.72243846G>C GRCh38
NC_000011.9:g.71954890G>C , CM000673.1:g.71954890G>C GRCh37
NC_000011.8:g.71632538G>C NCBI36
NG_008169.1:g.5331C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.159C>G MANE Select ENSP00000298231.5:p.Gly53=
ENST00000544057.1:n.85+1734C>G
NM_005169.3:c.159C>G NP_005160.2:p.Gly53=
NM_005169.4:c.159C>G MANE Select NP_005160.2:p.Gly53=