Canonical Allele Identifier: CA504296879
Gene: RAX HGNC NCBI

Linked Data

gnomAD v4: 18-59269085-C-G
MyVariant Identifiers: chr18:g.56936317C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269085C>G , CM000680.2:g.59269085C>G GRCh38
NC_000018.9:g.56936317C>G , CM000680.1:g.56936317C>G GRCh37
NC_000018.8:g.55087297C>G NCBI36
NG_013031.1:g.9309G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000334889.4:c.960G>C MANE Select ENSP00000334813.3:p.Pro320=
ENST00000256852.7:c.*391G>C ENSP00000256852.7:n.*391G>C
ENST00000334889.3:c.960G>C ENSP00000334813.3:p.Pro320=
NM_013435.2:c.960G>C NP_038463.2:p.Pro320=
NM_013435.3:c.960G>C MANE Select NP_038463.2:p.Pro320=
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