Canonical Allele Identifier: CA8979250
Gene: RAX HGNC NCBI

Linked Data

dbSNP Id: rs750142920
ExAC: 18:56936375 G / A
gnomAD v2: 18-56936375-G-A
gnomAD v3: 18-59269143-G-A
gnomAD v4: 18-59269143-G-A
MyVariant Identifiers: chr18:g.56936375G>A (hg19) chr18:g.59269143G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269143G>A , CM000680.2:g.59269143G>A GRCh38
NC_000018.9:g.56936375G>A , CM000680.1:g.56936375G>A GRCh37
NC_000018.8:g.55087355G>A NCBI36
NG_013031.1:g.9251C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000334889.4:c.902C>T MANE Select ENSP00000334813.3:p.Pro301Leu
ENST00000256852.7:c.*333C>T ENSP00000256852.7:n.*333C>T
ENST00000334889.3:c.902C>T ENSP00000334813.3:p.Pro301Leu
NM_013435.2:c.902C>T NP_038463.2:p.Pro301Leu
NM_013435.3:c.902C>T MANE Select NP_038463.2:p.Pro301Leu
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