Canonical Allele Identifier: CA224385834
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs896595667
gnomAD v2: 11-71954863-T-C
gnomAD v4: 11-72243819-T-C
MyVariant Identifiers: chr11:g.71954863T>C (hg19) chr11:g.72243819T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243819T>C , CM000673.2:g.72243819T>C GRCh38
NC_000011.9:g.71954863T>C , CM000673.1:g.71954863T>C GRCh37
NC_000011.8:g.71632511T>C NCBI36
NG_008169.1:g.5358A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.186A>G MANE Select ENSP00000298231.5:p.Leu62=
ENST00000544057.1:n.85+1761A>G
NM_005169.3:c.186A>G NP_005160.2:p.Leu62=
NM_005169.4:c.186A>G MANE Select NP_005160.2:p.Leu62=
Search 100 bp 5'
Search 100 bp 3'