Canonical Allele Identifier: CA10641906

Gene: RAX

Linked Data

• ClinVar Variation Id: 327509
• ClinVar RCV Id: RCV000367090
• dbSNP Id: rs114467275
• gnomAD v2: 18-56934799-C-A
• gnomAD v3: 18-59267567-C-A
• gnomAD v4: 18-59267567-C-A
• MyVariant Identifiers: chr18:g.56934799C>A (hg19) ; chr18:g.59267567C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59267567C>A , CM000680.2:g.59267567C>A	GRCh38
NC_000018.9:g.56934799C>A , CM000680.1:g.56934799C>A	GRCh37
NC_000018.8:g.55085779C>A	NCBI36
NG_013031.1:g.10827G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334889.4:c.*1437G>T MANE Select	ENSP00000334813.3:n.*1437G>T
ENST00000256852.7:c.*1909G>T	ENSP00000256852.7:n.*1909G>T
ENST00000334889.3:c.*1437G>T	ENSP00000334813.3:n.*1437G>T
NM_013435.2:c.*1437G>T	NP_038463.2:n.*1437G>T
NM_013435.3:c.*1437G>T MANE Select	NP_038463.2:n.*1437G>T