Canonical Allele Identifier: CA224385719
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs932845911

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243614T>C , CM000673.2:g.72243614T>C GRCh38
NC_000011.9:g.71954658T>C , CM000673.1:g.71954658T>C GRCh37
NC_000011.8:g.71632306T>C NCBI36
NG_008169.1:g.5563A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+174A>G MANE Select ENSP00000298231.5:n.217+174A>G
ENST00000544057.1:n.85+1966A>G
NM_005169.3:c.217+174A>G NP_005160.2:n.217+174A>G
NM_005169.4:c.217+174A>G MANE Select NP_005160.2:n.217+174A>G