Canonical Allele Identifier: CA504296833
Gene: RAX HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.56936287C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269055C>T , CM000680.2:g.59269055C>T GRCh38
NC_000018.9:g.56936287C>T , CM000680.1:g.56936287C>T GRCh37
NC_000018.8:g.55087267C>T NCBI36
NG_013031.1:g.9339G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334889.4:c.990G>A MANE Select ENSP00000334813.3:p.Leu330=
ENST00000256852.7:c.*421G>A ENSP00000256852.7:n.*421G>A
ENST00000334889.3:c.990G>A ENSP00000334813.3:p.Leu330=
NM_013435.2:c.990G>A NP_038463.2:p.Leu330=
NM_013435.3:c.990G>A MANE Select NP_038463.2:p.Leu330=