Canonical Allele Identifier: CA356738385
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746232T>G , CM000666.2:g.41746232T>G GRCh38
NC_000004.11:g.41748249T>G , CM000666.1:g.41748249T>G GRCh37
NC_000004.10:g.41443006T>G NCBI36
NG_008243.1:g.7739A>C , LRG_513:g.7739A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.520A>C MANE Select ENSP00000226382.2:p.Lys174Gln
ENST00000226382.3:c.520A>C ENSP00000226382.2:p.Lys174Gln
ENST00000510424.2:n.341A>C
NM_003924.3:c.520A>C , LRG_513t1:c.520A>C NP_003915.2:p.Lys174Gln
NM_003924.4:c.520A>C MANE Select NP_003915.2:p.Lys174Gln