This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA377920609
Gene: ARL3 HGNC NCBI
ClinVar RCV:
RCV002027794
ClinVar Variation:
1521101
dbSNP:
1428393158
gnomAD v3:
10:102685962 C / T
gnomAD v4:
chr10-102685962-C-T
MyVariant.info:
GRCh38 chr10:g.102685962C>T
GRCh37 chr10:g.104445719C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102685962C>T , CM000672.2:g.102685962C>T GRCh38
NC_000010.10:g.104445719C>T , CM000672.1:g.104445719C>T GRCh37
NC_000010.9:g.104435709C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260746.6:c.355G>A MANE Select ENSP00000260746.4:p.Val119Met
ENST00000260746.5:c.355G>A ENSP00000260746.4:p.Val119Met
NM_004311.3:c.355G>A NP_004302.1:p.Val119Met
XM_017016260.1:c.355G>A XP_016871749.1:p.Val119Met
NM_004311.4:c.355G>A MANE Select NP_004302.1:p.Val119Met
Search 100 bp 5'
Search 100 bp 3'