Canonical Allele Identifier: CA381746115
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243794-A-G
MyVariant Identifiers: chr11:g.71954838A>G (hg19) chr11:g.72243794A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243794A>G , CM000673.2:g.72243794A>G GRCh38
NC_000011.9:g.71954838A>G , CM000673.1:g.71954838A>G GRCh37
NC_000011.8:g.71632486A>G NCBI36
NG_008169.1:g.5383T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.211T>C MANE Select ENSP00000298231.5:p.Ser71Pro
ENST00000544057.1:n.85+1786T>C
NM_005169.3:c.211T>C NP_005160.2:p.Ser71Pro
NM_005169.4:c.211T>C MANE Select NP_005160.2:p.Ser71Pro
Search 100 bp 5'
Search 100 bp 3'