Canonical Allele Identifier: CA381746554
Gene: PHOX2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.71954886A>C (hg19) chr11:g.72243842A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243842A>C , CM000673.2:g.72243842A>C GRCh38
NC_000011.9:g.71954886A>C , CM000673.1:g.71954886A>C GRCh37
NC_000011.8:g.71632534A>C NCBI36
NG_008169.1:g.5335T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.163T>G MANE Select ENSP00000298231.5:p.Ser55Ala
ENST00000544057.1:n.85+1738T>G
NM_005169.3:c.163T>G NP_005160.2:p.Ser55Ala
NM_005169.4:c.163T>G MANE Select NP_005160.2:p.Ser55Ala
Search 100 bp 5'
Search 100 bp 3'