Canonical Allele Identifier: CA204179

Gene: ARL13B

Linked Data

• ClinVar Variation Id: 207910
• ClinVar RCV Id: RCV000190189 ; RCV001852523
• dbSNP Id: rs771933896
• ExAC: 3:93722751 G / T
• gnomAD v2: 3-93722751-G-T
• gnomAD v3: 3-94003907-G-T
• gnomAD v4: 3-94003907-G-T
• MyVariant Identifiers: chr3:g.93722751G>T (hg19) ; chr3:g.94003907G>T (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94003907G>T , CM000665.2:g.94003907G>T	GRCh38
NC_000003.11:g.93722751G>T , CM000665.1:g.93722751G>T	GRCh37
NC_000003.10:g.95205441G>T	NCBI36
NG_017076.1:g.28769G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394222.8:c.379G>T MANE Select	ENSP00000377769.3:p.Val127Leu
ENST00000475206.3:n.611G>T
ENST00000486562.2:c.59+23425G>T	ENSP00000505366.1:n.59+23425G>T
ENST00000492165.3:n.661G>T
ENST00000679404.1:c.304G>T	ENSP00000505252.1:p.Val102Leu
ENST00000679587.1:c.379G>T	ENSP00000505396.1:p.Val127Leu
ENST00000679601.1:c.*231G>T	ENSP00000506200.1:n.*231G>T
ENST00000679607.1:c.-458+15196G>T	ENSP00000505148.1:n.-458+15196G>T
ENST00000679654.1:c.252+7223G>T	ENSP00000505178.1:n.252+7223G>T
ENST00000679657.1:c.-33+23425G>T	ENSP00000505494.1:n.-33+23425G>T
ENST00000679666.1:c.8+14791G>T	ENSP00000506469.1:n.8+14791G>T
ENST00000679739.1:c.70G>T	ENSP00000506703.1:p.Val24Leu
ENST00000679872.1:c.328G>T	ENSP00000505607.1:p.Val110Leu
ENST00000680414.1:c.*231G>T	ENSP00000506063.1:n.*231G>T
ENST00000680430.1:c.628G>T	ENSP00000504943.1:n.628G>T
ENST00000680994.1:n.410+7963G>T
ENST00000681013.1:c.379G>T	ENSP00000506243.1:p.Val127Leu
ENST00000681247.1:c.59+23425G>T	ENSP00000505168.1:n.59+23425G>T
ENST00000681380.1:c.379G>T	ENSP00000505402.1:p.Val127Leu
ENST00000681655.1:c.304G>T	ENSP00000505036.1:p.Val102Leu
ENST00000303097.11:c.59+23425G>T	ENSP00000306225.7:n.59+23425G>T
ENST00000335438.7:c.*231G>T	ENSP00000335400.3:n.*231G>T
ENST00000394222.7:c.379G>T	ENSP00000377769.3:p.Val127Leu
ENST00000460371.5:c.130+7963G>T	ENSP00000417263.1:n.130+7963G>T
ENST00000471138.5:c.379G>T	ENSP00000420780.1:p.Val127Leu
ENST00000486562.1:n.336+7963G>T
ENST00000492165.2:n.444G>T
ENST00000535334.5:c.70G>T	ENSP00000445145.1:p.Val24Leu
NM_001174150.1:c.379G>T	NP_001167621.1:p.Val127Leu
NM_001174151.1:c.70G>T	NP_001167622.1:p.Val24Leu
NM_144996.3:c.59+23425G>T	NP_659433.2:n.59+23425G>T
NM_182896.2:c.379G>T	NP_878899.1:p.Val127Leu
NR_033427.1:n.415+7963G>T
XM_006713531.2:c.334G>T	XP_006713594.1:p.Val112Leu
XM_006713532.2:c.334G>T	XP_006713595.1:p.Val112Leu
XM_011512532.1:c.343G>T	XP_011510834.1:p.Val115Leu
XM_011512533.1:c.343G>T	XP_011510835.1:p.Val115Leu
XM_011512534.1:c.334G>T	XP_011510836.1:p.Val112Leu
XM_011512535.1:c.304G>T	XP_011510837.1:p.Val102Leu
XM_011512536.1:c.70G>T	XP_011510838.1:p.Val24Leu
NM_001321328.1:c.334G>T	NP_001308257.1:p.Val112Leu
NR_135621.1:n.411+7963G>T
XM_006713532.3:c.334G>T	XP_006713595.1:p.Val112Leu
XM_011512532.2:c.343G>T	XP_011510834.1:p.Val115Leu
XM_011512533.2:c.343G>T	XP_011510835.1:p.Val115Leu
XM_011512534.2:c.334G>T	XP_011510836.1:p.Val112Leu
XM_011512535.2:c.304G>T	XP_011510837.1:p.Val102Leu
XM_017005853.1:c.70G>T	XP_016861342.1:p.Val24Leu
NM_001174150.2:c.379G>T MANE Select	NP_001167621.1:p.Val127Leu
NM_001321328.2:c.334G>T	NP_001308257.1:p.Val112Leu
NM_144996.4:c.59+23425G>T	NP_659433.2:n.59+23425G>T
NM_182896.3:c.379G>T	NP_878899.1:p.Val127Leu
NR_033427.2:n.399+7963G>T
NR_135621.2:n.395+7963G>T
NM_001174151.2:c.70G>T	NP_001167622.1:p.Val24Leu