Canonical Allele Identifier: CA939438768
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1388878503
gnomAD v3: 11-72243619-C-T
gnomAD v4: 11-72243619-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243619C>T , CM000673.2:g.72243619C>T GRCh38
NC_000011.9:g.71954663C>T , CM000673.1:g.71954663C>T GRCh37
NC_000011.8:g.71632311C>T NCBI36
NG_008169.1:g.5558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+169G>A MANE Select ENSP00000298231.5:n.217+169G>A
ENST00000544057.1:n.85+1961G>A
NM_005169.3:c.217+169G>A NP_005160.2:n.217+169G>A
NM_005169.4:c.217+169G>A MANE Select NP_005160.2:n.217+169G>A
Search 100 bp 5'
Search 100 bp 3'