Canonical Allele Identifier: CA252021

Gene: ARL13B

Linked Data

• ClinVar Variation Id: 1992
• ClinVar RCV Id: RCV000002069
• dbSNP Id: rs121912607
• MyVariant Identifiers: chr3:g.93722618G>A (hg19) ; chr3:g.94003774G>A (hg38)
• PubMed: PMID:18674751 ; PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94003774G>A , CM000665.2:g.94003774G>A	GRCh38
NC_000003.11:g.93722618G>A , CM000665.1:g.93722618G>A	GRCh37
NC_000003.10:g.95205308G>A	NCBI36
NG_017076.1:g.28636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394222.8:c.246G>A MANE Select	ENSP00000377769.3:p.Trp82Ter
ENST00000475206.3:n.478G>A
ENST00000486562.2:c.59+23292G>A	ENSP00000505366.1:n.59+23292G>A
ENST00000492165.3:n.528G>A
ENST00000679404.1:c.171G>A	ENSP00000505252.1:p.Trp57Ter
ENST00000679587.1:c.246G>A	ENSP00000505396.1:p.Trp82Ter
ENST00000679601.1:c.*98G>A	ENSP00000506200.1:n.*98G>A
ENST00000679607.1:c.-458+15063G>A	ENSP00000505148.1:n.-458+15063G>A
ENST00000679654.1:c.252+7090G>A	ENSP00000505178.1:n.252+7090G>A
ENST00000679657.1:c.-33+23292G>A	ENSP00000505494.1:n.-33+23292G>A
ENST00000679666.1:c.8+14658G>A	ENSP00000506469.1:n.8+14658G>A
ENST00000679739.1:c.-64G>A	ENSP00000506703.1:n.-64G>A
ENST00000679872.1:c.195G>A	ENSP00000505607.1:p.Trp65Ter
ENST00000680414.1:c.*98G>A	ENSP00000506063.1:n.*98G>A
ENST00000680430.1:c.495G>A	ENSP00000504943.1:n.495G>A
ENST00000680994.1:n.410+7830G>A
ENST00000681013.1:c.246G>A	ENSP00000506243.1:p.Trp82Ter
ENST00000681247.1:c.59+23292G>A	ENSP00000505168.1:n.59+23292G>A
ENST00000681380.1:c.246G>A	ENSP00000505402.1:p.Trp82Ter
ENST00000681655.1:c.171G>A	ENSP00000505036.1:p.Trp57Ter
ENST00000303097.11:c.59+23292G>A	ENSP00000306225.7:n.59+23292G>A
ENST00000335438.7:c.*98G>A	ENSP00000335400.3:n.*98G>A
ENST00000394222.7:c.246G>A	ENSP00000377769.3:p.Trp82Ter
ENST00000460371.5:c.130+7830G>A	ENSP00000417263.1:n.130+7830G>A
ENST00000471138.5:c.246G>A	ENSP00000420780.1:p.Trp82Ter
ENST00000475206.2:n.537G>A
ENST00000486562.1:n.336+7830G>A
ENST00000492165.2:n.311G>A
ENST00000535334.5:c.-64G>A	ENSP00000445145.1:n.-64G>A
NM_001174150.1:c.246G>A	NP_001167621.1:p.Trp82Ter
NM_001174151.1:c.-64G>A	NP_001167622.1:n.-64G>A
NM_144996.3:c.59+23292G>A	NP_659433.2:n.59+23292G>A
NM_182896.2:c.246G>A	NP_878899.1:p.Trp82Ter
NR_033427.1:n.415+7830G>A
XM_006713531.2:c.201G>A	XP_006713594.1:p.Trp67Ter
XM_006713532.2:c.201G>A	XP_006713595.1:p.Trp67Ter
XM_011512532.1:c.210G>A	XP_011510834.1:p.Trp70Ter
XM_011512533.1:c.210G>A	XP_011510835.1:p.Trp70Ter
XM_011512534.1:c.201G>A	XP_011510836.1:p.Trp67Ter
XM_011512535.1:c.171G>A	XP_011510837.1:p.Trp57Ter
XM_011512536.1:c.-64G>A	XP_011510838.1:n.-64G>A
NM_001321328.1:c.201G>A	NP_001308257.1:p.Trp67Ter
NR_135621.1:n.411+7830G>A
XM_006713532.3:c.201G>A	XP_006713595.1:p.Trp67Ter
XM_011512532.2:c.210G>A	XP_011510834.1:p.Trp70Ter
XM_011512533.2:c.210G>A	XP_011510835.1:p.Trp70Ter
XM_011512534.2:c.201G>A	XP_011510836.1:p.Trp67Ter
XM_011512535.2:c.171G>A	XP_011510837.1:p.Trp57Ter
XM_017005853.1:c.-64G>A	XP_016861342.1:n.-64G>A
NM_001174150.2:c.246G>A MANE Select	NP_001167621.1:p.Trp82Ter
NM_001321328.2:c.201G>A	NP_001308257.1:p.Trp67Ter
NM_144996.4:c.59+23292G>A	NP_659433.2:n.59+23292G>A
NM_182896.3:c.246G>A	NP_878899.1:p.Trp82Ter
NR_033427.2:n.399+7830G>A
NR_135621.2:n.395+7830G>A
NM_001174151.2:c.-64G>A	NP_001167622.1:n.-64G>A