Canonical Allele Identifier: CA252075

Gene: ARL6

Linked Data

• ClinVar Variation Id: 2045
• ClinVar RCV Id: RCV000002126 ; RCV001257838
• dbSNP Id: rs587777805
• gnomAD v4: 3-97784966-C-T
• MyVariant Identifiers: chr3:g.97503810C>T (hg19) ; chr3:g.97784966C>T (hg38)
• PubMed: PMID:19858128 ; PMID:19956407 ; PMID:21282186

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.97784966C>T , CM000665.2:g.97784966C>T	GRCh38
NC_000003.11:g.97503810C>T , CM000665.1:g.97503810C>T	GRCh37
NC_000003.10:g.98986500C>T	NCBI36
NG_008119.1:g.25216C>T
NG_008119.2:g.25216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462412.3:c.266C>T	ENSP00000418740.2:p.Ala89Val
ENST00000631834.2:c.266C>T	ENSP00000488530.2:p.Ala89Val
ENST00000463745.6:c.266C>T MANE Select	ENSP00000419619.1:p.Ala89Val
ENST00000335979.6:c.266C>T	ENSP00000337722.2:p.Ala89Val
ENST00000394206.5:c.266C>T	ENSP00000377756.1:p.Ala89Val
ENST00000462412.2:c.266C>T	ENSP00000418740.1:p.Ala89Val
ENST00000463745.5:c.266C>T	ENSP00000419619.1:p.Ala89Val
ENST00000493990.5:c.266C>T	ENSP00000418057.1:p.Ala89Val
ENST00000496713.1:n.504C>T
ENST00000631834.1:c.128C>T	ENSP00000488530.1:p.Ala43Val
NM_001278293.1:c.266C>T	NP_001265222.1:p.Ala89Val
NM_032146.4:c.266C>T	NP_115522.1:p.Ala89Val
NM_177976.2:c.266C>T	NP_816931.1:p.Ala89Val
NR_103511.1:n.849C>T
XM_006713779.2:c.266C>T	XP_006713842.1:p.Ala89Val
XM_006713783.2:c.266C>T	XP_006713846.1:p.Ala89Val
XM_011513230.1:c.266C>T	XP_011511532.1:p.Ala89Val
XR_924184.1:n.738C>T
XR_924185.1:n.844C>T
XR_924186.1:n.891C>T
XR_924187.1:n.738C>T
XR_924188.1:n.792C>T
XR_924189.1:n.738C>T
NM_001278293.2:c.266C>T	NP_001265222.1:p.Ala89Val
NM_001323513.1:c.266C>T	NP_001310442.1:p.Ala89Val
NM_001323514.1:c.266C>T	NP_001310443.1:p.Ala89Val
NM_032146.5:c.266C>T	NP_115522.1:p.Ala89Val
NM_177976.3:c.266C>T	NP_816931.1:p.Ala89Val
NR_136595.1:n.849C>T
NR_136597.1:n.750C>T
NR_136598.1:n.754C>T
NR_136600.1:n.750C>T
NR_136601.1:n.750C>T
NR_136602.1:n.750C>T
XM_017007311.2:c.266C>T	XP_016862800.1:p.Ala89Val
XM_017007312.2:c.266C>T	XP_016862801.1:p.Ala89Val
XR_001740319.2:n.2690C>T
XR_001740321.2:n.2690C>T
XR_002959599.1:n.2749C>T
XR_924184.3:n.2690C>T
XR_924185.3:n.2789C>T
XR_924186.3:n.2848C>T
XR_924187.3:n.2690C>T
XR_924188.3:n.2749C>T
XR_924189.3:n.2690C>T
NM_001278293.3:c.266C>T MANE Select	NP_001265222.1:p.Ala89Val
NM_001323513.2:c.266C>T	NP_001310442.1:p.Ala89Val
NM_001323514.2:c.266C>T	NP_001310443.1:p.Ala89Val
NR_103511.2:n.612C>T
NR_136595.2:n.612C>T
NR_136597.2:n.513C>T
NR_136598.2:n.517C>T
NR_136600.2:n.513C>T
NR_136601.2:n.513C>T
NR_136602.2:n.513C>T
NR_103511.3:n.612C>T
NR_136600.3:n.513C>T
NR_136601.3:n.513C>T
NR_136602.3:n.513C>T