Canonical Allele Identifier: CA5668428

Gene: ARL3

Linked Data

• ClinVar Variation Id: 424963
• ClinVar RCV Id: RCV000487659 ; RCV000714512
• dbSNP Id: rs770782663
• ExAC: 10:104445628 C / T
• gnomAD v2: 10-104445628-C-T
• gnomAD v4: 10-102685871-C-T
• COSMIC: COSM1675524
• MyVariant Identifiers: chr10:g.104445628C>T (hg19) ; chr10:g.102685871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102685871C>T , CM000672.2:g.102685871C>T	GRCh38
NC_000010.10:g.104445628C>T , CM000672.1:g.104445628C>T	GRCh37
NC_000010.9:g.104435618C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260746.6:c.446G>A MANE Select	ENSP00000260746.4:p.Arg149His
ENST00000260746.5:c.446G>A	ENSP00000260746.4:p.Arg149His
NM_004311.3:c.446G>A	NP_004302.1:p.Arg149His
XM_017016260.1:c.446G>A	XP_016871749.1:p.Arg149His
NM_004311.4:c.446G>A MANE Select	NP_004302.1:p.Arg149His