Canonical Allele Identifier: CA6170933
Gene: PHOX2A HGNC NCBI

Linked Data

ClinVar Variation Id: 259655
ClinVar RCV Id: RCV000245729
dbSNP Id: rs182932220
ExAC: 11:71954893 G / A
gnomAD v2: 11-71954893-G-A
gnomAD v3: 11-72243849-G-A
gnomAD v4: 11-72243849-G-A
MyVariant Identifiers: chr11:g.71954893G>A (hg19) chr11:g.72243849G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243849G>A , CM000673.2:g.72243849G>A GRCh38
NC_000011.9:g.71954893G>A , CM000673.1:g.71954893G>A GRCh37
NC_000011.8:g.71632541G>A NCBI36
NG_008169.1:g.5328C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.156C>T MANE Select ENSP00000298231.5:p.Leu52=
ENST00000544057.1:n.85+1731C>T
NM_005169.3:c.156C>T NP_005160.2:p.Leu52=
NM_005169.4:c.156C>T MANE Select NP_005160.2:p.Leu52=
Search 100 bp 5'
Search 100 bp 3'