Canonical Allele Identifier: CA253980
Gene: PHOX2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6840
ClinVar RCV Id: RCV000007242
dbSNP Id: rs104894269

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243790G>A , CM000673.2:g.72243790G>A GRCh38
NC_000011.8:g.71632482G>A NCBI36
NC_000011.9:g.71954834G>A , CM000673.1:g.71954834G>A GRCh37
NG_008169.1:g.5387C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298231.5:c.215C>T ENSP00000298231.5:p.Ala72Val
ENST00000544057.1:n.85+1790C>T
NM_005169.3:c.215C>T VV NP_005160.2:p.Ala72Val