Canonical Allele Identifier: CA402583971
Gene: RAX HGNC NCBI

Linked Data

gnomAD v4: 18-59269143-G-T
MyVariant Identifiers: chr18:g.56936375G>T (hg19) chr18:g.59269143G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269143G>T , CM000680.2:g.59269143G>T GRCh38
NC_000018.9:g.56936375G>T , CM000680.1:g.56936375G>T GRCh37
NC_000018.8:g.55087355G>T NCBI36
NG_013031.1:g.9251C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000334889.4:c.902C>A MANE Select ENSP00000334813.3:p.Pro301His
ENST00000256852.7:c.*333C>A ENSP00000256852.7:n.*333C>A
ENST00000334889.3:c.902C>A ENSP00000334813.3:p.Pro301His
NM_013435.2:c.902C>A NP_038463.2:p.Pro301His
NM_013435.3:c.902C>A MANE Select NP_038463.2:p.Pro301His
Search 100 bp 5'
Search 100 bp 3'