Canonical Allele Identifier: CA356737180
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41748006C>T (hg19) chr4:g.41745989C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745989C>T , CM000666.2:g.41745989C>T GRCh38
NC_000004.11:g.41748006C>T , CM000666.1:g.41748006C>T GRCh37
NC_000004.10:g.41442763C>T NCBI36
NG_008243.1:g.7982G>A , LRG_513:g.7982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.763G>A MANE Select ENSP00000226382.2:p.Ala255Thr
ENST00000226382.3:c.763G>A ENSP00000226382.2:p.Ala255Thr
NM_003924.3:c.763G>A , LRG_513t1:c.763G>A NP_003915.2:p.Ala255Thr
NM_003924.4:c.763G>A MANE Select NP_003915.2:p.Ala255Thr
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