Canonical Allele Identifier: CA8979220
Gene: RAX HGNC NCBI

Linked Data

dbSNP Id: rs527976702
ExAC: 18:56936282 G / T
gnomAD v2: 18-56936282-G-T
gnomAD v3: 18-59269050-G-T
gnomAD v4: 18-59269050-G-T
MyVariant Identifiers: chr18:g.56936282G>T (hg19) chr18:g.59269050G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269050G>T , CM000680.2:g.59269050G>T GRCh38
NC_000018.9:g.56936282G>T , CM000680.1:g.56936282G>T GRCh37
NC_000018.8:g.55087262G>T NCBI36
NG_013031.1:g.9344C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334889.4:c.995C>A MANE Select ENSP00000334813.3:p.Ala332Asp
ENST00000256852.7:c.*426C>A ENSP00000256852.7:n.*426C>A
ENST00000334889.3:c.995C>A ENSP00000334813.3:p.Ala332Asp
NM_013435.2:c.995C>A NP_038463.2:p.Ala332Asp
NM_013435.3:c.995C>A MANE Select NP_038463.2:p.Ala332Asp
Search 100 bp 5'
Search 100 bp 3'