Canonical Allele Identifier: CA224385718
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs921395147

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243603A>C , CM000673.2:g.72243603A>C GRCh38
NC_000011.9:g.71954647A>C , CM000673.1:g.71954647A>C GRCh37
NC_000011.8:g.71632295A>C NCBI36
NG_008169.1:g.5574T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+185T>G MANE Select ENSP00000298231.5:n.217+185T>G
ENST00000544057.1:n.85+1977T>G
NM_005169.3:c.217+185T>G NP_005160.2:n.217+185T>G
NM_005169.4:c.217+185T>G MANE Select NP_005160.2:n.217+185T>G