Canonical Allele Identifier: CA434461733
Community Standard Title: NM_001174150.2(ARL13B):c.57C>A (p.Val19=)
Gene: ARL13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93980480C>A , CM000665.2:g.93980480C>A GRCh38
NC_000003.11:g.93699324C>A , CM000665.1:g.93699324C>A GRCh37
NC_000003.10:g.95182014C>A NCBI36
NG_017076.1:g.5342C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.57C>A MANE Select NP_001167621.1:p.Val19=
ENST00000394222.8:c.57C>A MANE Select ENSP00000377769.3:p.Val19=
NM_001174150.1:c.57C>A NP_001167621.1:p.Val19=
NM_001174151.1:c.-182C>A NP_001167622.1:n.-182C>A
NM_001174151.2:c.-182C>A NP_001167622.1:n.-182C>A
NM_001321328.1:c.-111C>A NP_001308257.1:n.-111C>A
NM_001321328.2:c.-111C>A NP_001308257.1:n.-111C>A
NM_144996.3:c.57C>A NP_659433.2:p.Val19=
NM_144996.4:c.57C>A NP_659433.2:p.Val19=
NM_182896.2:c.57C>A NP_878899.1:p.Val19=
NM_182896.3:c.57C>A NP_878899.1:p.Val19=
NR_033427.1:n.342C>A
NR_033427.2:n.326C>A
NR_135621.1:n.342C>A
NR_135621.2:n.326C>A
ENST00000303097.11:c.57C>A ENSP00000306225.7:p.Val19=
ENST00000335438.7:c.57C>A ENSP00000335400.3:p.Val19=
ENST00000394222.7:c.57C>A ENSP00000377769.3:p.Val19=
ENST00000460371.5:c.57C>A ENSP00000417263.1:p.Val19=
ENST00000471138.5:c.57C>A ENSP00000420780.1:p.Val19=
ENST00000475206.2:n.211C>A
ENST00000475206.3:n.152C>A
ENST00000478400.3:n.339C>A
ENST00000486562.1:n.267C>A
ENST00000486562.2:c.57C>A ENSP00000505366.1:p.Val19=
ENST00000492165.2:n.193C>A
ENST00000492165.3:n.339C>A
ENST00000535334.5:c.-182C>A ENSP00000445145.1:n.-182C>A
ENST00000679404.1:c.-298C>A ENSP00000505252.1:n.-298C>A
ENST00000679587.1:c.57C>A ENSP00000505396.1:p.Val19=
ENST00000679601.1:c.57C>A ENSP00000506200.1:p.Val19=
ENST00000679607.1:c.-500C>A ENSP00000505148.1:n.-500C>A
ENST00000679654.1:c.57C>A ENSP00000505178.1:p.Val19=
ENST00000679657.1:c.-35C>A ENSP00000505494.1:n.-35C>A
ENST00000679666.1:c.-293C>A ENSP00000506469.1:n.-293C>A
ENST00000679739.1:c.-182C>A ENSP00000506703.1:n.-182C>A
ENST00000679872.1:c.-293C>A ENSP00000505607.1:n.-293C>A
ENST00000680414.1:c.57C>A ENSP00000506063.1:p.Val19=
ENST00000680430.1:c.57C>A ENSP00000504943.1:p.Val19=
ENST00000680994.1:n.337C>A
ENST00000681013.1:c.57C>A ENSP00000506243.1:p.Val19=
ENST00000681247.1:c.57C>A ENSP00000505168.1:p.Val19=
ENST00000681380.1:c.57C>A ENSP00000505402.1:p.Val19=
ENST00000681655.1:c.-59C>A ENSP00000505036.1:n.-59C>A
XM_006713531.2:c.-111C>A XP_006713594.1:n.-111C>A
XM_006713532.2:c.-126C>A XP_006713595.1:n.-126C>A
XM_006713532.3:c.-126C>A XP_006713595.1:n.-126C>A
XM_011512532.1:c.-35C>A XP_011510834.1:n.-35C>A
XM_011512532.2:c.-35C>A XP_011510834.1:n.-35C>A
XM_011512533.1:c.-75C>A XP_011510835.1:n.-75C>A
XM_011512533.2:c.-75C>A XP_011510835.1:n.-75C>A
XM_011512534.1:c.-151C>A XP_011510836.1:n.-151C>A
XM_011512534.2:c.-151C>A XP_011510836.1:n.-151C>A
XM_011512535.1:c.-59C>A XP_011510837.1:n.-59C>A
XM_011512535.2:c.-59C>A XP_011510837.1:n.-59C>A
XM_017005853.1:c.-310C>A XP_016861342.1:n.-310C>A