Canonical Allele Identifier: CA381747153
Gene: PHOX2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243921G>C , CM000673.2:g.72243921G>C GRCh38
NC_000011.9:g.71954965G>C , CM000673.1:g.71954965G>C GRCh37
NC_000011.8:g.71632613G>C NCBI36
NG_008169.1:g.5256C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.84C>G MANE Select ENSP00000298231.5:p.Ser28Arg
ENST00000544057.1:n.85+1659C>G
NM_005169.3:c.84C>G NP_005160.2:p.Ser28Arg
NM_005169.4:c.84C>G MANE Select NP_005160.2:p.Ser28Arg