Canonical Allele Identifier: CA2504195
Gene: ARL13B HGNC NCBI

Linked Data

ClinVar Variation Id: 287670
dbSNP Id: rs139997243
gnomAD v2: 3-93761891-C-A
gnomAD v3: 3-94043047-C-A
gnomAD v4: 3-94043047-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94043047C>A , CM000665.2:g.94043047C>A GRCh38
NC_000003.11:g.93761891C>A , CM000665.1:g.93761891C>A GRCh37
NC_000003.10:g.95244581C>A NCBI36
NG_017076.1:g.67909C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394222.8:c.831C>A MANE Select ENSP00000377769.3:p.Asn277Lys
ENST00000486562.2:c.510C>A ENSP00000505366.1:p.Asn170Lys
ENST00000679404.1:c.756C>A ENSP00000505252.1:p.Asn252Lys
ENST00000679587.1:c.831C>A ENSP00000505396.1:p.Asn277Lys
ENST00000679601.1:c.*683C>A ENSP00000506200.1:n.*683C>A
ENST00000679607.1:c.-7C>A ENSP00000505148.1:n.-7C>A
ENST00000679654.1:c.*439C>A ENSP00000505178.1:n.*439C>A
ENST00000679657.1:c.-32-6359C>A ENSP00000505494.1:n.-32-6359C>A
ENST00000679666.1:c.459C>A ENSP00000506469.1:p.Asn153Lys
ENST00000679739.1:c.*239C>A ENSP00000506703.1:n.*239C>A
ENST00000679872.1:c.780C>A ENSP00000505607.1:p.Asn260Lys
ENST00000680414.1:c.*577C>A ENSP00000506063.1:n.*577C>A
ENST00000680430.1:c.1080C>A ENSP00000504943.1:n.1080C>A
ENST00000680994.1:n.861C>A
ENST00000681013.1:c.*239C>A ENSP00000506243.1:n.*239C>A
ENST00000681247.1:c.*239C>A ENSP00000505168.1:n.*239C>A
ENST00000681377.1:n.1163C>A
ENST00000681380.1:c.918C>A ENSP00000505402.1:p.Asn306Lys
ENST00000681655.1:c.756C>A ENSP00000505036.1:p.Asn252Lys
ENST00000303097.11:c.510C>A ENSP00000306225.7:p.Asn170Lys
ENST00000335438.7:c.*683C>A ENSP00000335400.3:n.*683C>A
ENST00000394222.7:c.831C>A ENSP00000377769.3:p.Asn277Lys
ENST00000460371.5:c.*304C>A ENSP00000417263.1:n.*304C>A
ENST00000471138.5:c.831C>A ENSP00000420780.1:p.Asn277Lys
ENST00000535334.5:c.522C>A ENSP00000445145.1:p.Asn174Lys
NM_001174150.1:c.831C>A NP_001167621.1:p.Asn277Lys
NM_001174151.1:c.522C>A NP_001167622.1:p.Asn174Lys
NM_144996.3:c.510C>A NP_659433.2:p.Asn170Lys
NM_182896.2:c.831C>A NP_878899.1:p.Asn277Lys
NR_033427.1:n.871C>A
XM_006713531.2:c.786C>A XP_006713594.1:p.Asn262Lys
XM_006713532.2:c.786C>A XP_006713595.1:p.Asn262Lys
XM_011512532.1:c.795C>A XP_011510834.1:p.Asn265Lys
XM_011512533.1:c.795C>A XP_011510835.1:p.Asn265Lys
XM_011512534.1:c.786C>A XP_011510836.1:p.Asn262Lys
XM_011512535.1:c.756C>A XP_011510837.1:p.Asn252Lys
XM_011512536.1:c.522C>A XP_011510838.1:p.Asn174Lys
NM_001321328.1:c.786C>A NP_001308257.1:p.Asn262Lys
NR_135621.1:n.862C>A
XM_006713532.3:c.786C>A XP_006713595.1:p.Asn262Lys
XM_011512532.2:c.795C>A XP_011510834.1:p.Asn265Lys
XM_011512533.2:c.795C>A XP_011510835.1:p.Asn265Lys
XM_011512534.2:c.786C>A XP_011510836.1:p.Asn262Lys
XM_011512535.2:c.756C>A XP_011510837.1:p.Asn252Lys
XM_017005853.1:c.522C>A XP_016861342.1:p.Asn174Lys
NM_001174150.2:c.831C>A MANE Select NP_001167621.1:p.Asn277Lys
NM_001321328.2:c.786C>A NP_001308257.1:p.Asn262Lys
NM_144996.4:c.510C>A NP_659433.2:p.Asn170Lys
NM_182896.3:c.831C>A NP_878899.1:p.Asn277Lys
NR_033427.2:n.855C>A
NR_135621.2:n.846C>A
NM_001174151.2:c.522C>A NP_001167622.1:p.Asn174Lys