Canonical Allele Identifier: CA356737202
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41748018C>T (hg19) chr4:g.41746001C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746001C>T , CM000666.2:g.41746001C>T GRCh38
NC_000004.11:g.41748018C>T , CM000666.1:g.41748018C>T GRCh37
NC_000004.10:g.41442775C>T NCBI36
NG_008243.1:g.7970G>A , LRG_513:g.7970G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.751G>A MANE Select ENSP00000226382.2:p.Ala251Thr
ENST00000226382.3:c.751G>A ENSP00000226382.2:p.Ala251Thr
NM_003924.3:c.751G>A , LRG_513t1:c.751G>A NP_003915.2:p.Ala251Thr
NM_003924.4:c.751G>A MANE Select NP_003915.2:p.Ala251Thr
Search 100 bp 5'
Search 100 bp 3'