Canonical Allele Identifier: CA402583885
Gene: RAX HGNC NCBI

Linked Data

gnomAD v4: 18-59269125-G-A
MyVariant Identifiers: chr18:g.56936357G>A (hg19) chr18:g.59269125G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269125G>A , CM000680.2:g.59269125G>A GRCh38
NC_000018.9:g.56936357G>A , CM000680.1:g.56936357G>A GRCh37
NC_000018.8:g.55087337G>A NCBI36
NG_013031.1:g.9269C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334889.4:c.920C>T MANE Select ENSP00000334813.3:p.Pro307Leu
ENST00000256852.7:c.*351C>T ENSP00000256852.7:n.*351C>T
ENST00000334889.3:c.920C>T ENSP00000334813.3:p.Pro307Leu
NM_013435.2:c.920C>T NP_038463.2:p.Pro307Leu
NM_013435.3:c.920C>T MANE Select NP_038463.2:p.Pro307Leu
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