Canonical Allele Identifier: CA14220352
Gene: IRX3 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.54286285G>T
GRCh37 chr16:g.54320197G>T
gnomAD v2:
16:54320197 G / T
gnomAD v3:
16:54286285 G / T
gnomAD v4:
chr16-54286285-G-T
Joint Max Group AF 0.50456746 (EAS)
Genomes Max Group AF 0.49481481 (EAS)
Exomes Max Group AF 0.50553315 (EAS)
dbSNP:
3751723
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.54286285G>T , CM000678.2:g.54286285G>T GRCh38
NC_000016.9:g.54320197G>T , CM000678.1:g.54320197G>T GRCh37
NC_000016.8:g.52877698G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329734.4:c.-235C>A MANE Select ENSP00000331608.3:n.-235C>A
ENST00000329734.3:c.-235C>A ENSP00000331608.3:n.-235C>A
ENST00000558180.2:n.46+394C>A
NM_024336.2:c.-235C>A NP_077312.2:n.-235C>A
XM_005256139.2:c.-235C>A XP_005256196.1:n.-235C>A
XM_005256139.3:c.-235C>A XP_005256196.1:n.-235C>A
NM_024336.3:c.-235C>A MANE Select NP_077312.2:n.-235C>A
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