Canonical Allele Identifier: CA381746352

Gene: PHOX2A

Linked Data

• gnomAD v4: 11-72243820-A-G
• MyVariant Identifiers: chr11:g.71954864A>G (hg19) ; chr11:g.72243820A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243820A>G , CM000673.2:g.72243820A>G	GRCh38
NC_000011.9:g.71954864A>G , CM000673.1:g.71954864A>G	GRCh37
NC_000011.8:g.71632512A>G	NCBI36
NG_008169.1:g.5357T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.185T>C MANE Select	ENSP00000298231.5:p.Leu62Pro
ENST00000544057.1:n.85+1760T>C
NM_005169.3:c.185T>C	NP_005160.2:p.Leu62Pro
NM_005169.4:c.185T>C MANE Select	NP_005160.2:p.Leu62Pro