Canonical Allele Identifier: CA381746311
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1949140551
gnomAD v3: 11-72243817-C-T
gnomAD v4: 11-72243817-C-T
MyVariant Identifiers: chr11:g.71954861C>T (hg19) chr11:g.72243817C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243817C>T , CM000673.2:g.72243817C>T GRCh38
NC_000011.9:g.71954861C>T , CM000673.1:g.71954861C>T GRCh37
NC_000011.8:g.71632509C>T NCBI36
NG_008169.1:g.5360G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.188G>A MANE Select ENSP00000298231.5:p.Arg63His
ENST00000544057.1:n.85+1763G>A
NM_005169.3:c.188G>A NP_005160.2:p.Arg63His
NM_005169.4:c.188G>A MANE Select NP_005160.2:p.Arg63His
Search 100 bp 5'
Search 100 bp 3'