Canonical Allele Identifier: CA475598236
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1949140694
gnomAD v3: 11-72243825-G-A
gnomAD v4: 11-72243825-G-A
MyVariant Identifiers: chr11:g.71954869G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243825G>A , CM000673.2:g.72243825G>A GRCh38
NC_000011.9:g.71954869G>A , CM000673.1:g.71954869G>A GRCh37
NC_000011.8:g.71632517G>A NCBI36
NG_008169.1:g.5352C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.180C>T MANE Select ENSP00000298231.5:p.Gly60=
ENST00000544057.1:n.85+1755C>T
NM_005169.3:c.180C>T NP_005160.2:p.Gly60=
NM_005169.4:c.180C>T MANE Select NP_005160.2:p.Gly60=
Search 100 bp 5'
Search 100 bp 3'