Canonical Allele Identifier: CA252023

Gene: ARL13B

Linked Data

• ClinVar Variation Id: 1993
• ClinVar RCV Id: RCV000002070 ; RCV003330381
• dbSNP Id: rs121912608
• gnomAD v4: 3-94036663-C-T
• MyVariant Identifiers: chr3:g.93755507C>T (hg19) ; chr3:g.94036663C>T (hg38)
• PubMed: PMID:18674751 ; PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94036663C>T , CM000665.2:g.94036663C>T	GRCh38
NC_000003.11:g.93755507C>T , CM000665.1:g.93755507C>T	GRCh37
NC_000003.10:g.95238197C>T	NCBI36
NG_017076.1:g.61525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394222.8:c.598C>T MANE Select	ENSP00000377769.3:p.Arg200Cys
ENST00000486562.2:c.277C>T	ENSP00000505366.1:p.Arg93Cys
ENST00000679404.1:c.523C>T	ENSP00000505252.1:p.Arg175Cys
ENST00000679587.1:c.598C>T	ENSP00000505396.1:p.Arg200Cys
ENST00000679601.1:c.*450C>T	ENSP00000506200.1:n.*450C>T
ENST00000679607.1:c.-240C>T	ENSP00000505148.1:n.-240C>T
ENST00000679654.1:c.*206C>T	ENSP00000505178.1:n.*206C>T
ENST00000679657.1:c.-32-12743C>T	ENSP00000505494.1:n.-32-12743C>T
ENST00000679666.1:c.226C>T	ENSP00000506469.1:p.Arg76Cys
ENST00000679739.1:c.*6C>T	ENSP00000506703.1:n.*6C>T
ENST00000679872.1:c.547C>T	ENSP00000505607.1:p.Arg183Cys
ENST00000680414.1:c.*344C>T	ENSP00000506063.1:n.*344C>T
ENST00000680430.1:c.847C>T	ENSP00000504943.1:n.847C>T
ENST00000680994.1:n.628C>T
ENST00000681013.1:c.*6C>T	ENSP00000506243.1:n.*6C>T
ENST00000681247.1:c.*6C>T	ENSP00000505168.1:n.*6C>T
ENST00000681377.1:n.930C>T
ENST00000681380.1:c.598C>T	ENSP00000505402.1:p.Arg200Cys
ENST00000681655.1:c.523C>T	ENSP00000505036.1:p.Arg175Cys
ENST00000303097.11:c.277C>T	ENSP00000306225.7:p.Arg93Cys
ENST00000335438.7:c.*450C>T	ENSP00000335400.3:n.*450C>T
ENST00000394222.7:c.598C>T	ENSP00000377769.3:p.Arg200Cys
ENST00000460371.5:c.*71C>T	ENSP00000417263.1:n.*71C>T
ENST00000471138.5:c.598C>T	ENSP00000420780.1:p.Arg200Cys
ENST00000486562.1:n.554C>T
ENST00000535334.5:c.289C>T	ENSP00000445145.1:p.Arg97Cys
NM_001174150.1:c.598C>T	NP_001167621.1:p.Arg200Cys
NM_001174151.1:c.289C>T	NP_001167622.1:p.Arg97Cys
NM_144996.3:c.277C>T	NP_659433.2:p.Arg93Cys
NM_182896.2:c.598C>T	NP_878899.1:p.Arg200Cys
NR_033427.1:n.638C>T
XM_006713531.2:c.553C>T	XP_006713594.1:p.Arg185Cys
XM_006713532.2:c.553C>T	XP_006713595.1:p.Arg185Cys
XM_011512532.1:c.562C>T	XP_011510834.1:p.Arg188Cys
XM_011512533.1:c.562C>T	XP_011510835.1:p.Arg188Cys
XM_011512534.1:c.553C>T	XP_011510836.1:p.Arg185Cys
XM_011512535.1:c.523C>T	XP_011510837.1:p.Arg175Cys
XM_011512536.1:c.289C>T	XP_011510838.1:p.Arg97Cys
NM_001321328.1:c.553C>T	NP_001308257.1:p.Arg185Cys
NR_135621.1:n.629C>T
XM_006713532.3:c.553C>T	XP_006713595.1:p.Arg185Cys
XM_011512532.2:c.562C>T	XP_011510834.1:p.Arg188Cys
XM_011512533.2:c.562C>T	XP_011510835.1:p.Arg188Cys
XM_011512534.2:c.553C>T	XP_011510836.1:p.Arg185Cys
XM_011512535.2:c.523C>T	XP_011510837.1:p.Arg175Cys
XM_017005853.1:c.289C>T	XP_016861342.1:p.Arg97Cys
NM_001174150.2:c.598C>T MANE Select	NP_001167621.1:p.Arg200Cys
NM_001321328.2:c.553C>T	NP_001308257.1:p.Arg185Cys
NM_144996.4:c.277C>T	NP_659433.2:p.Arg93Cys
NM_182896.3:c.598C>T	NP_878899.1:p.Arg200Cys
NR_033427.2:n.622C>T
NR_135621.2:n.613C>T
NM_001174151.2:c.289C>T	NP_001167622.1:p.Arg97Cys