Canonical Allele Identifier: CA353678731
Community Standard Title: NM_001174150.2(ARL13B):c.772C>T (p.Gln258Ter)
Gene: ARL13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94039962C>T , CM000665.2:g.94039962C>T GRCh38
NC_000003.11:g.93758806C>T , CM000665.1:g.93758806C>T GRCh37
NC_000003.10:g.95241496C>T NCBI36
NG_017076.1:g.64824C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.772C>T MANE Select NP_001167621.1:p.Gln258Ter
ENST00000394222.8:c.772C>T MANE Select ENSP00000377769.3:p.Gln258Ter
NM_001174150.1:c.772C>T NP_001167621.1:p.Gln258Ter
NM_001174151.1:c.463C>T NP_001167622.1:p.Gln155Ter
NM_001174151.2:c.463C>T NP_001167622.1:p.Gln155Ter
NM_001321328.1:c.727C>T NP_001308257.1:p.Gln243Ter
NM_001321328.2:c.727C>T NP_001308257.1:p.Gln243Ter
NM_144996.3:c.451C>T NP_659433.2:p.Gln151Ter
NM_144996.4:c.451C>T NP_659433.2:p.Gln151Ter
NM_182896.2:c.772C>T NP_878899.1:p.Gln258Ter
NM_182896.3:c.772C>T NP_878899.1:p.Gln258Ter
NR_033427.1:n.812C>T
NR_033427.2:n.796C>T
NR_135621.1:n.803C>T
NR_135621.2:n.787C>T
ENST00000303097.11:c.451C>T ENSP00000306225.7:p.Gln151Ter
ENST00000335438.7:c.*624C>T ENSP00000335400.3:n.*624C>T
ENST00000394222.7:c.772C>T ENSP00000377769.3:p.Gln258Ter
ENST00000460371.5:c.*245C>T ENSP00000417263.1:n.*245C>T
ENST00000471138.5:c.772C>T ENSP00000420780.1:p.Gln258Ter
ENST00000486562.2:c.451C>T ENSP00000505366.1:p.Gln151Ter
ENST00000535334.5:c.463C>T ENSP00000445145.1:p.Gln155Ter
ENST00000679404.1:c.697C>T ENSP00000505252.1:p.Gln233Ter
ENST00000679587.1:c.772C>T ENSP00000505396.1:p.Gln258Ter
ENST00000679601.1:c.*624C>T ENSP00000506200.1:n.*624C>T
ENST00000679607.1:c.-66C>T ENSP00000505148.1:n.-66C>T
ENST00000679654.1:c.*380C>T ENSP00000505178.1:n.*380C>T
ENST00000679657.1:c.-32-9444C>T ENSP00000505494.1:n.-32-9444C>T
ENST00000679666.1:c.400C>T ENSP00000506469.1:p.Gln134Ter
ENST00000679739.1:c.*180C>T ENSP00000506703.1:n.*180C>T
ENST00000679872.1:c.721C>T ENSP00000505607.1:p.Gln241Ter
ENST00000680414.1:c.*518C>T ENSP00000506063.1:n.*518C>T
ENST00000680430.1:c.1021C>T ENSP00000504943.1:n.1021C>T
ENST00000680994.1:n.802C>T
ENST00000681013.1:c.*180C>T ENSP00000506243.1:n.*180C>T
ENST00000681247.1:c.*180C>T ENSP00000505168.1:n.*180C>T
ENST00000681377.1:n.1104C>T
ENST00000681380.1:c.859C>T ENSP00000505402.1:p.Gln287Ter
ENST00000681655.1:c.697C>T ENSP00000505036.1:p.Gln233Ter
XM_006713531.2:c.727C>T XP_006713594.1:p.Gln243Ter
XM_006713532.2:c.727C>T XP_006713595.1:p.Gln243Ter
XM_006713532.3:c.727C>T XP_006713595.1:p.Gln243Ter
XM_011512532.1:c.736C>T XP_011510834.1:p.Gln246Ter
XM_011512532.2:c.736C>T XP_011510834.1:p.Gln246Ter
XM_011512533.1:c.736C>T XP_011510835.1:p.Gln246Ter
XM_011512533.2:c.736C>T XP_011510835.1:p.Gln246Ter
XM_011512534.1:c.727C>T XP_011510836.1:p.Gln243Ter
XM_011512534.2:c.727C>T XP_011510836.1:p.Gln243Ter
XM_011512535.1:c.697C>T XP_011510837.1:p.Gln233Ter
XM_011512535.2:c.697C>T XP_011510837.1:p.Gln233Ter
XM_011512536.1:c.463C>T XP_011510838.1:p.Gln155Ter
XM_017005853.1:c.463C>T XP_016861342.1:p.Gln155Ter