Canonical Allele Identifier: CA356738349
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746227C>A , CM000666.2:g.41746227C>A GRCh38
NC_000004.11:g.41748244C>A , CM000666.1:g.41748244C>A GRCh37
NC_000004.10:g.41443001C>A NCBI36
NG_008243.1:g.7744G>T , LRG_513:g.7744G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.525G>T MANE Select ENSP00000226382.2:p.Lys175Asn
ENST00000226382.3:c.525G>T ENSP00000226382.2:p.Lys175Asn
ENST00000510424.2:n.346G>T
NM_003924.3:c.525G>T , LRG_513t1:c.525G>T NP_003915.2:p.Lys175Asn
NM_003924.4:c.525G>T MANE Select NP_003915.2:p.Lys175Asn