Canonical Allele Identifier: CA2614940005
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243715-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243715C>G , CM000673.2:g.72243715C>G GRCh38
NC_000011.9:g.71954759C>G , CM000673.1:g.71954759C>G GRCh37
NC_000011.8:g.71632407C>G NCBI36
NG_008169.1:g.5462G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+73G>C MANE Select ENSP00000298231.5:n.217+73G>C
ENST00000544057.1:n.85+1865G>C
NM_005169.3:c.217+73G>C NP_005160.2:n.217+73G>C
NM_005169.4:c.217+73G>C MANE Select NP_005160.2:n.217+73G>C
Search 100 bp 5'
Search 100 bp 3'