Canonical Allele Identifier: CA279880

Gene: ARL13B

Linked Data

• ClinVar Variation Id: 218107
• ClinVar RCV Id: RCV000202353 ; RCV002515490
• dbSNP Id: rs863225430
• MyVariant Identifiers: chr3:g.93722629A>G (hg19) ; chr3:g.94003785A>G (hg38)
• PubMed: PMID:25138100

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94003785A>G , CM000665.2:g.94003785A>G	GRCh38
NC_000003.11:g.93722629A>G , CM000665.1:g.93722629A>G	GRCh37
NC_000003.10:g.95205319A>G	NCBI36
NG_017076.1:g.28647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394222.8:c.257A>G MANE Select	ENSP00000377769.3:p.Tyr86Cys
ENST00000475206.3:n.489A>G
ENST00000486562.2:c.59+23303A>G	ENSP00000505366.1:n.59+23303A>G
ENST00000492165.3:n.539A>G
ENST00000679404.1:c.182A>G	ENSP00000505252.1:p.Tyr61Cys
ENST00000679587.1:c.257A>G	ENSP00000505396.1:p.Tyr86Cys
ENST00000679601.1:c.*109A>G	ENSP00000506200.1:n.*109A>G
ENST00000679607.1:c.-458+15074A>G	ENSP00000505148.1:n.-458+15074A>G
ENST00000679654.1:c.252+7101A>G	ENSP00000505178.1:n.252+7101A>G
ENST00000679657.1:c.-33+23303A>G	ENSP00000505494.1:n.-33+23303A>G
ENST00000679666.1:c.8+14669A>G	ENSP00000506469.1:n.8+14669A>G
ENST00000679739.1:c.-53A>G	ENSP00000506703.1:n.-53A>G
ENST00000679872.1:c.206A>G	ENSP00000505607.1:p.Tyr69Cys
ENST00000680414.1:c.*109A>G	ENSP00000506063.1:n.*109A>G
ENST00000680430.1:c.506A>G	ENSP00000504943.1:n.506A>G
ENST00000680994.1:n.410+7841A>G
ENST00000681013.1:c.257A>G	ENSP00000506243.1:p.Tyr86Cys
ENST00000681247.1:c.59+23303A>G	ENSP00000505168.1:n.59+23303A>G
ENST00000681380.1:c.257A>G	ENSP00000505402.1:p.Tyr86Cys
ENST00000681655.1:c.182A>G	ENSP00000505036.1:p.Tyr61Cys
ENST00000303097.11:c.59+23303A>G	ENSP00000306225.7:n.59+23303A>G
ENST00000335438.7:c.*109A>G	ENSP00000335400.3:n.*109A>G
ENST00000394222.7:c.257A>G	ENSP00000377769.3:p.Tyr86Cys
ENST00000460371.5:c.130+7841A>G	ENSP00000417263.1:n.130+7841A>G
ENST00000471138.5:c.257A>G	ENSP00000420780.1:p.Tyr86Cys
ENST00000475206.2:n.548A>G
ENST00000486562.1:n.336+7841A>G
ENST00000492165.2:n.322A>G
ENST00000535334.5:c.-53A>G	ENSP00000445145.1:n.-53A>G
NM_001174150.1:c.257A>G	NP_001167621.1:p.Tyr86Cys
NM_001174151.1:c.-53A>G	NP_001167622.1:n.-53A>G
NM_144996.3:c.59+23303A>G	NP_659433.2:n.59+23303A>G
NM_182896.2:c.257A>G	NP_878899.1:p.Tyr86Cys
NR_033427.1:n.415+7841A>G
XM_006713531.2:c.212A>G	XP_006713594.1:p.Tyr71Cys
XM_006713532.2:c.212A>G	XP_006713595.1:p.Tyr71Cys
XM_011512532.1:c.221A>G	XP_011510834.1:p.Tyr74Cys
XM_011512533.1:c.221A>G	XP_011510835.1:p.Tyr74Cys
XM_011512534.1:c.212A>G	XP_011510836.1:p.Tyr71Cys
XM_011512535.1:c.182A>G	XP_011510837.1:p.Tyr61Cys
XM_011512536.1:c.-53A>G	XP_011510838.1:n.-53A>G
NM_001321328.1:c.212A>G	NP_001308257.1:p.Tyr71Cys
NR_135621.1:n.411+7841A>G
XM_006713532.3:c.212A>G	XP_006713595.1:p.Tyr71Cys
XM_011512532.2:c.221A>G	XP_011510834.1:p.Tyr74Cys
XM_011512533.2:c.221A>G	XP_011510835.1:p.Tyr74Cys
XM_011512534.2:c.212A>G	XP_011510836.1:p.Tyr71Cys
XM_011512535.2:c.182A>G	XP_011510837.1:p.Tyr61Cys
XM_017005853.1:c.-53A>G	XP_016861342.1:n.-53A>G
NM_001174150.2:c.257A>G MANE Select	NP_001167621.1:p.Tyr86Cys
NM_001321328.2:c.212A>G	NP_001308257.1:p.Tyr71Cys
NM_144996.4:c.59+23303A>G	NP_659433.2:n.59+23303A>G
NM_182896.3:c.257A>G	NP_878899.1:p.Tyr86Cys
NR_033427.2:n.399+7841A>G
NR_135621.2:n.395+7841A>G
NM_001174151.2:c.-53A>G	NP_001167622.1:n.-53A>G