Canonical Allele Identifier: CA475598273
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1237133294
gnomAD v2: 11-71954899-G-A
gnomAD v3: 11-72243855-G-A
gnomAD v4: 11-72243855-G-A
MyVariant Identifiers: chr11:g.71954899G>A (hg19) chr11:g.72243855G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243855G>A , CM000673.2:g.72243855G>A GRCh38
NC_000011.9:g.71954899G>A , CM000673.1:g.71954899G>A GRCh37
NC_000011.8:g.71632547G>A NCBI36
NG_008169.1:g.5322C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.150C>T MANE Select ENSP00000298231.5:p.Pro50=
ENST00000544057.1:n.85+1725C>T
NM_005169.3:c.150C>T NP_005160.2:p.Pro50=
NM_005169.4:c.150C>T MANE Select NP_005160.2:p.Pro50=
Search 100 bp 5'
Search 100 bp 3'