Canonical Allele Identifier: CA381746246

Gene: PHOX2A

Linked Data

• dbSNP Id: rs1225639714
• gnomAD v2: 11-71954856-G-T
• gnomAD v3: 11-72243812-G-T
• gnomAD v4: 11-72243812-G-T
• MyVariant Identifiers: chr11:g.71954856G>T (hg19) ; chr11:g.72243812G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243812G>T , CM000673.2:g.72243812G>T	GRCh38
NC_000011.9:g.71954856G>T , CM000673.1:g.71954856G>T	GRCh37
NC_000011.8:g.71632504G>T	NCBI36
NG_008169.1:g.5365C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.193C>A MANE Select	ENSP00000298231.5:p.His65Asn
ENST00000544057.1:n.85+1768C>A
NM_005169.3:c.193C>A	NP_005160.2:p.His65Asn
NM_005169.4:c.193C>A MANE Select	NP_005160.2:p.His65Asn