Canonical Allele Identifier: CA6170929
Gene: PHOX2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2272413
ClinVar RCV Id: RCV002817234
dbSNP Id: rs764865688
ExAC: 11:71954847 C / G
gnomAD v2: 11-71954847-C-G
gnomAD v3: 11-72243803-C-G
gnomAD v4: 11-72243803-C-G
MyVariant Identifiers: chr11:g.71954847C>G (hg19) chr11:g.72243803C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243803C>G , CM000673.2:g.72243803C>G GRCh38
NC_000011.9:g.71954847C>G , CM000673.1:g.71954847C>G GRCh37
NC_000011.8:g.71632495C>G NCBI36
NG_008169.1:g.5374G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.202G>C MANE Select ENSP00000298231.5:p.Ala68Pro
ENST00000544057.1:n.85+1777G>C
NM_005169.3:c.202G>C NP_005160.2:p.Ala68Pro
NM_005169.4:c.202G>C MANE Select NP_005160.2:p.Ala68Pro
Search 100 bp 5'
Search 100 bp 3'