Canonical Allele Identifier: CA475598200
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1949140375
gnomAD v4: 11-72243792-C-G
MyVariant Identifiers: chr11:g.71954836C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243792C>G , CM000673.2:g.72243792C>G GRCh38
NC_000011.9:g.71954836C>G , CM000673.1:g.71954836C>G GRCh37
NC_000011.8:g.71632484C>G NCBI36
NG_008169.1:g.5385G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.213G>C MANE Select ENSP00000298231.5:p.Ser71=
ENST00000544057.1:n.85+1788G>C
NM_005169.3:c.213G>C NP_005160.2:p.Ser71=
NM_005169.4:c.213G>C MANE Select NP_005160.2:p.Ser71=
Search 100 bp 5'
Search 100 bp 3'