Canonical Allele Identifier: CA680005033

Gene: PHOX2A

Linked Data

• dbSNP Id: rs1388878503
• gnomAD v3: 11-72243619-C-G
• gnomAD v4: 11-72243619-C-G
• MyVariant Identifiers: chr11:g.71954663C>G (hg19) ; chr11:g.72243619C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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