Canonical Allele Identifier: CA402584378
Gene: RAX HGNC NCBI

Linked Data

dbSNP Id: rs2070312247
MyVariant Identifiers: chr18:g.56936478C>G (hg19) chr18:g.59269246C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269246C>G , CM000680.2:g.59269246C>G GRCh38
NC_000018.9:g.56936478C>G , CM000680.1:g.56936478C>G GRCh37
NC_000018.8:g.55087458C>G NCBI36
NG_013031.1:g.9148G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000334889.4:c.799G>C MANE Select ENSP00000334813.3:p.Ala267Pro
ENST00000256852.7:c.*230G>C ENSP00000256852.7:n.*230G>C
ENST00000334889.3:c.799G>C ENSP00000334813.3:p.Ala267Pro
NM_013435.2:c.799G>C NP_038463.2:p.Ala267Pro
NM_013435.3:c.799G>C MANE Select NP_038463.2:p.Ala267Pro
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