Canonical Allele Identifier: CA10651964

Gene: RAX

Linked Data

• ClinVar Variation Id: 327502
• ClinVar RCV Id: RCV000282218
• dbSNP Id: rs769710821
• gnomAD v2: 18-56934419-T-C
• gnomAD v3: 18-59267187-T-C
• gnomAD v4: 18-59267187-T-C
• MyVariant Identifiers: chr18:g.56934419T>C (hg19) ; chr18:g.59267187T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59267187T>C , CM000680.2:g.59267187T>C	GRCh38
NC_000018.9:g.56934419T>C , CM000680.1:g.56934419T>C	GRCh37
NC_000018.8:g.55085399T>C	NCBI36
NG_013031.1:g.11207A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334889.4:c.*1817A>G MANE Select	ENSP00000334813.3:n.*1817A>G
ENST00000256852.7:c.*2289A>G	ENSP00000256852.7:n.*2289A>G
ENST00000334889.3:c.*1817A>G	ENSP00000334813.3:n.*1817A>G
NM_013435.2:c.*1817A>G	NP_038463.2:n.*1817A>G
NM_013435.3:c.*1817A>G MANE Select	NP_038463.2:n.*1817A>G