Canonical Allele Identifier: CA475598195
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243789-T-C
MyVariant Identifiers: chr11:g.71954833T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243789T>C , CM000673.2:g.72243789T>C GRCh38
NC_000011.9:g.71954833T>C , CM000673.1:g.71954833T>C GRCh37
NC_000011.8:g.71632481T>C NCBI36
NG_008169.1:g.5388A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.216A>G MANE Select ENSP00000298231.5:p.Ala72=
ENST00000544057.1:n.85+1791A>G
NM_005169.3:c.216A>G NP_005160.2:p.Ala72=
NM_005169.4:c.216A>G MANE Select NP_005160.2:p.Ala72=
Search 100 bp 5'
Search 100 bp 3'