Canonical Allele Identifier: CA118938
Gene: RAX HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.59272465G>A
GRCh37 chr18:g.56939697G>A
gnomAD v3:
18:59272465 G / A
gnomAD v4:
chr18-59272465-G-A
Joint Max Group AF 0.00001144 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar RCV:
RCV000008074
ClinVar Variation:
7635
dbSNP:
104894663
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59272465G>A , CM000680.2:g.59272465G>A GRCh38
NC_000018.9:g.56939697G>A , CM000680.1:g.56939697G>A GRCh37
NC_000018.8:g.55090677G>A NCBI36
NG_013031.1:g.5929C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334889.4:c.439C>T MANE Select ENSP00000334813.3:p.Gln147Ter
ENST00000256852.7:c.289+453C>T ENSP00000256852.7:n.289+453C>T
ENST00000334889.3:c.439C>T ENSP00000334813.3:p.Gln147Ter
ENST00000591550.1:n.456C>T
NM_013435.2:c.439C>T NP_038463.2:p.Gln147Ter
NM_013435.3:c.439C>T MANE Select NP_038463.2:p.Gln147Ter
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