Canonical Allele Identifier: CA253980

Gene: PHOX2A

Linked Data

• ClinVar Variation Id: 6840
• ClinVar RCV Id: RCV000007242
• dbSNP Id: rs104894269
• gnomAD v4: 11-72243790-G-A
• MyVariant Identifiers: chr11:g.71954834G>A (hg19) ; chr11:g.72243790G>A (hg38)
• PubMed: PMID:11600883

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.215C>T MANE Select	ENSP00000298231.5:p.Ala72Val
ENST00000544057.1:n.85+1790C>T
NM_005169.3:c.215C>T	NP_005160.2:p.Ala72Val
NM_005169.4:c.215C>T MANE Select	NP_005160.2:p.Ala72Val