Canonical Allele Identifier: CA600085780

Gene: PHOX2A

Linked Data

• dbSNP Id: rs1164608352
• gnomAD v2: 11-71954650-T-C
• gnomAD v3: 11-72243606-T-C
• gnomAD v4: 11-72243606-T-C
• MyVariant Identifiers: chr11:g.71954650T>C (hg19) ; chr11:g.72243606T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243606T>C , CM000673.2:g.72243606T>C	GRCh38
NC_000011.9:g.71954650T>C , CM000673.1:g.71954650T>C	GRCh37
NC_000011.8:g.71632298T>C	NCBI36
NG_008169.1:g.5571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.217+182A>G MANE Select	ENSP00000298231.5:n.217+182A>G
ENST00000544057.1:n.85+1974A>G
NM_005169.3:c.217+182A>G	NP_005160.2:n.217+182A>G
NM_005169.4:c.217+182A>G MANE Select	NP_005160.2:n.217+182A>G