Canonical Allele Identifier: CA799419

Gene: RIMKLA

Linked Data

• ClinVar Variation Id: 3154355
• ClinVar RCV Id: RCV004451719
• dbSNP Id: rs377484455
• ExAC: 1:42875715 G / A
• gnomAD v2: 1-42875715-G-A
• gnomAD v3: 1-42410044-G-A
• gnomAD v4: 1-42410044-G-A
• MyVariant Identifiers: chr1:g.42875715G>A (hg19) ; chr1:g.42410044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42410044G>A , CM000663.2:g.42410044G>A	GRCh38
NC_000001.10:g.42875715G>A , CM000663.1:g.42875715G>A	GRCh37
NC_000001.9:g.42648302G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431473.4:c.542G>A MANE Select	ENSP00000414330.2:p.Arg181His
ENST00000410070.6:c.170G>A	ENSP00000387064.2:p.Arg57His
ENST00000431473.3:c.542G>A	ENSP00000414330.2:p.Arg181His
NM_173642.3:c.542G>A	NP_775913.2:p.Arg181His
XM_006710585.2:c.542G>A	XP_006710648.1:p.Arg181His
XM_006710585.3:c.542G>A	XP_006710648.1:p.Arg181His
NM_173642.4:c.542G>A MANE Select	NP_775913.2:p.Arg181His