Canonical Allele Identifier: CA8979273

Gene: RAX

Linked Data

• ClinVar Variation Id: 468922
• ClinVar RCV Id: RCV000529186
• dbSNP Id: rs777929939
• ExAC: 18:56936548 G / T
• gnomAD v2: 18-56936548-G-T
• gnomAD v3: 18-59269316-G-T
• gnomAD v4: 18-59269316-G-T
• MyVariant Identifiers: chr18:g.56936548G>T (hg19) ; chr18:g.59269316G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59269316G>T , CM000680.2:g.59269316G>T	GRCh38
NC_000018.9:g.56936548G>T , CM000680.1:g.56936548G>T	GRCh37
NC_000018.8:g.55087528G>T	NCBI36
NG_013031.1:g.9078C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334889.4:c.729C>A MANE Select	ENSP00000334813.3:p.Ser243=
ENST00000256852.7:c.*160C>A	ENSP00000256852.7:n.*160C>A
ENST00000334889.3:c.729C>A	ENSP00000334813.3:p.Ser243=
NM_013435.2:c.729C>A	NP_038463.2:p.Ser243=
NM_013435.3:c.729C>A MANE Select	NP_038463.2:p.Ser243=