Canonical Allele Identifier: CA356738061
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746192G>C , CM000666.2:g.41746192G>C GRCh38
NC_000004.11:g.41748209G>C , CM000666.1:g.41748209G>C GRCh37
NC_000004.10:g.41442966G>C NCBI36
NG_008243.1:g.7779C>G , LRG_513:g.7779C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.560C>G MANE Select ENSP00000226382.2:p.Ala187Gly
ENST00000226382.3:c.560C>G ENSP00000226382.2:p.Ala187Gly
ENST00000510424.2:n.381C>G
NM_003924.3:c.560C>G , LRG_513t1:c.560C>G NP_003915.2:p.Ala187Gly
NM_003924.4:c.560C>G MANE Select NP_003915.2:p.Ala187Gly