Canonical Allele Identifier: CA475598291
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1395319520
gnomAD v3: 11-72243873-C-G
gnomAD v4: 11-72243873-C-G
MyVariant Identifiers: chr11:g.71954917C>G (hg19) chr11:g.72243873C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243873C>G , CM000673.2:g.72243873C>G GRCh38
NC_000011.9:g.71954917C>G , CM000673.1:g.71954917C>G GRCh37
NC_000011.8:g.71632565C>G NCBI36
NG_008169.1:g.5304G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.132G>C MANE Select ENSP00000298231.5:p.Ala44=
ENST00000544057.1:n.85+1707G>C
NM_005169.3:c.132G>C NP_005160.2:p.Ala44=
NM_005169.4:c.132G>C MANE Select NP_005160.2:p.Ala44=
Search 100 bp 5'
Search 100 bp 3'