Canonical Allele Identifier: CA504297044
Gene: RAX HGNC NCBI

Linked Data

gnomAD v4: 18-59269145-C-T
MyVariant Identifiers: chr18:g.56936377C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269145C>T , CM000680.2:g.59269145C>T GRCh38
NC_000018.9:g.56936377C>T , CM000680.1:g.56936377C>T GRCh37
NC_000018.8:g.55087357C>T NCBI36
NG_013031.1:g.9249G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000334889.4:c.900G>A MANE Select ENSP00000334813.3:p.Pro300=
ENST00000256852.7:c.*331G>A ENSP00000256852.7:n.*331G>A
ENST00000334889.3:c.900G>A ENSP00000334813.3:p.Pro300=
NM_013435.2:c.900G>A NP_038463.2:p.Pro300=
NM_013435.3:c.900G>A MANE Select NP_038463.2:p.Pro300=
Search 100 bp 5'
Search 100 bp 3'