Canonical Allele Identifier: CA377922038

Gene: ARL3

Linked Data

• ClinVar Variation Id: 587684
• ClinVar RCV Id: RCV000714966 ; RCV001862010
• dbSNP Id: rs1564730440
• gnomAD v4: 10-102689939-T-C
• MyVariant Identifiers: chr10:g.104449696T>C (hg19) ; chr10:g.102689939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102689939T>C , CM000672.2:g.102689939T>C	GRCh38
NC_000010.10:g.104449696T>C , CM000672.1:g.104449696T>C	GRCh37
NC_000010.9:g.104439686T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260746.6:c.269A>G MANE Select	ENSP00000260746.4:p.Tyr90Cys
ENST00000260746.5:c.269A>G	ENSP00000260746.4:p.Tyr90Cys
NM_004311.3:c.269A>G	NP_004302.1:p.Tyr90Cys
XM_017016260.1:c.269A>G	XP_016871749.1:p.Tyr90Cys
NM_004311.4:c.269A>G MANE Select	NP_004302.1:p.Tyr90Cys