Canonical Allele Identifier: CA381746714
Gene: PHOX2A HGNC NCBI

Linked Data

dbSNP Id: rs1335560338
gnomAD v4: 11-72243863-G-A
MyVariant Identifiers: chr11:g.71954907G>A (hg19) chr11:g.72243863G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243863G>A , CM000673.2:g.72243863G>A GRCh38
NC_000011.9:g.71954907G>A , CM000673.1:g.71954907G>A GRCh37
NC_000011.8:g.71632555G>A NCBI36
NG_008169.1:g.5314C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.142C>T MANE Select ENSP00000298231.5:p.Pro48Ser
ENST00000544057.1:n.85+1717C>T
NM_005169.3:c.142C>T NP_005160.2:p.Pro48Ser
NM_005169.4:c.142C>T MANE Select NP_005160.2:p.Pro48Ser
Search 100 bp 5'
Search 100 bp 3'