Canonical Allele Identifier: CA2506009

Gene: ARL6

Linked Data

• ClinVar Variation Id: 346943
• ClinVar RCV Id: RCV000304079 ; RCV000354200 ; RCV000860576 ; RCV001528228 ; RCV003972467
• dbSNP Id: rs201939836
• ExAC: 3:97516864 T / C
• gnomAD v2: 3-97516864-T-C
• gnomAD v3: 3-97798020-T-C
• gnomAD v4: 3-97798020-T-C
• MyVariant Identifiers: chr3:g.97516864T>C (hg19) ; chr3:g.97798020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.97798020T>C , CM000665.2:g.97798020T>C	GRCh38
NC_000003.11:g.97516864T>C , CM000665.1:g.97516864T>C	GRCh37
NC_000003.10:g.98999554T>C	NCBI36
NG_008119.1:g.38270T>C
NG_008119.2:g.38270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462412.3:c.536-4T>C	ENSP00000418740.2:n.536-4T>C
ENST00000631834.2:c.549-4T>C	ENSP00000488530.2:n.549-4T>C
ENST00000463745.6:c.536-4T>C MANE Select	ENSP00000419619.1:n.536-4T>C
ENST00000335979.6:c.536-4T>C	ENSP00000337722.2:n.536-4T>C
ENST00000394206.5:c.536-4T>C	ENSP00000377756.1:n.536-4T>C
ENST00000463745.5:c.536-4T>C	ENSP00000419619.1:n.536-4T>C
ENST00000476753.1:c.164-4T>C
ENST00000493990.5:c.536-4T>C	ENSP00000418057.1:n.536-4T>C
ENST00000494363.1:n.32-4T>C
ENST00000631834.1:c.411-4T>C	ENSP00000488530.1:n.411-4T>C
NM_001278293.1:c.536-4T>C	NP_001265222.1:n.536-4T>C
NM_032146.4:c.536-4T>C	NP_115522.1:n.536-4T>C
NM_177976.2:c.536-4T>C	NP_816931.1:n.536-4T>C
NR_103511.1:n.1119-4T>C
XM_006713779.2:c.549-4T>C	XP_006713842.1:n.549-4T>C
XM_006713783.2:c.480-4T>C	XP_006713846.1:n.480-4T>C
XR_924184.1:n.1224-4T>C
XR_924185.1:n.1330-4T>C
XR_924186.1:n.1377-4T>C
XR_924187.1:n.1224-4T>C
XR_924188.1:n.1278-4T>C
XR_924189.1:n.1224-4T>C
NM_001278293.2:c.536-4T>C	NP_001265222.1:n.536-4T>C
NM_001323513.1:c.549-4T>C	NP_001310442.1:n.549-4T>C
NM_001323514.1:c.480-4T>C	NP_001310443.1:n.480-4T>C
NM_032146.5:c.536-4T>C	NP_115522.1:n.536-4T>C
NM_177976.3:c.536-4T>C	NP_816931.1:n.536-4T>C
NR_136595.1:n.1689-4T>C
NR_136597.1:n.1577-4T>C
NR_136598.1:n.1024-4T>C
NR_136600.1:n.1033-4T>C
NR_136601.1:n.1020-4T>C
NR_136602.1:n.964-4T>C
XM_017007311.2:c.536-4T>C	XP_016862800.1:n.536-4T>C
XM_017007312.2:c.480-4T>C	XP_016862801.1:n.480-4T>C
XR_001740319.2:n.3176-4T>C
XR_001740321.2:n.2960-4T>C
XR_002959599.1:n.3576-4T>C
XR_924184.3:n.3176-4T>C
XR_924185.3:n.3275-4T>C
XR_924186.3:n.3334-4T>C
XR_924187.3:n.3176-4T>C
XR_924188.3:n.3235-4T>C
XR_924189.3:n.3176-4T>C
NM_001278293.3:c.536-4T>C MANE Select	NP_001265222.1:n.536-4T>C
NM_001323513.2:c.549-4T>C	NP_001310442.1:n.549-4T>C
NM_001323514.2:c.480-4T>C	NP_001310443.1:n.480-4T>C
NR_103511.2:n.882-4T>C
NR_136595.2:n.1452-4T>C
NR_136597.2:n.1340-4T>C
NR_136598.2:n.787-4T>C
NR_136600.2:n.796-4T>C
NR_136601.2:n.783-4T>C
NR_136602.2:n.727-4T>C
NR_103511.3:n.882-4T>C
NR_136600.3:n.796-4T>C
NR_136601.3:n.783-4T>C
NR_136602.3:n.727-4T>C