Canonical Allele Identifier: CA224385798
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs988279770
gnomAD v3: 11-72243775-G-C
gnomAD v4: 11-72243775-G-C
MyVariant Identifiers: chr11:g.71954819G>C (hg19) chr11:g.72243775G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243775G>C , CM000673.2:g.72243775G>C GRCh38
NC_000011.9:g.71954819G>C , CM000673.1:g.71954819G>C GRCh37
NC_000011.8:g.71632467G>C NCBI36
NG_008169.1:g.5402C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+13C>G MANE Select ENSP00000298231.5:n.217+13C>G
ENST00000544057.1:n.85+1805C>G
NM_005169.3:c.217+13C>G NP_005160.2:n.217+13C>G
NM_005169.4:c.217+13C>G MANE Select NP_005160.2:n.217+13C>G
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