Canonical Allele Identifier: CA356738666
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746279C>T , CM000666.2:g.41746279C>T GRCh38
NC_000004.11:g.41748296C>T , CM000666.1:g.41748296C>T GRCh37
NC_000004.10:g.41443053C>T NCBI36
NG_008243.1:g.7692G>A , LRG_513:g.7692G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.473G>A MANE Select ENSP00000226382.2:p.Arg158His
ENST00000226382.3:c.473G>A ENSP00000226382.2:p.Arg158His
ENST00000510424.2:n.294G>A
NM_003924.3:c.473G>A , LRG_513t1:c.473G>A NP_003915.2:p.Arg158His
NM_003924.4:c.473G>A MANE Select NP_003915.2:p.Arg158His