Canonical Allele Identifier: CA353678215

Gene: ARL13B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94036603A>C , CM000665.2:g.94036603A>C	GRCh38
NC_000003.11:g.93755447A>C , CM000665.1:g.93755447A>C	GRCh37
NC_000003.10:g.95238137A>C	NCBI36
NG_017076.1:g.61465A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001174150.2:c.538A>C MANE Select	NP_001167621.1:p.Lys180Gln
ENST00000394222.8:c.538A>C MANE Select	ENSP00000377769.3:p.Lys180Gln
NM_001174150.1:c.538A>C	NP_001167621.1:p.Lys180Gln
NM_001174151.1:c.229A>C	NP_001167622.1:p.Lys77Gln
NM_001174151.2:c.229A>C	NP_001167622.1:p.Lys77Gln
NM_001321328.1:c.493A>C	NP_001308257.1:p.Lys165Gln
NM_001321328.2:c.493A>C	NP_001308257.1:p.Lys165Gln
NM_144996.3:c.217A>C	NP_659433.2:p.Lys73Gln
NM_144996.4:c.217A>C	NP_659433.2:p.Lys73Gln
NM_182896.2:c.538A>C	NP_878899.1:p.Lys180Gln
NM_182896.3:c.538A>C	NP_878899.1:p.Lys180Gln
NR_033427.1:n.578A>C
NR_033427.2:n.562A>C
NR_135621.1:n.569A>C
NR_135621.2:n.553A>C
ENST00000303097.11:c.217A>C	ENSP00000306225.7:p.Lys73Gln
ENST00000335438.7:c.*390A>C	ENSP00000335400.3:n.*390A>C
ENST00000394222.7:c.538A>C	ENSP00000377769.3:p.Lys180Gln
ENST00000460371.5:c.*11A>C	ENSP00000417263.1:n.*11A>C
ENST00000471138.5:c.538A>C	ENSP00000420780.1:p.Lys180Gln
ENST00000486562.1:n.494A>C
ENST00000486562.2:c.217A>C	ENSP00000505366.1:p.Lys73Gln
ENST00000535334.5:c.229A>C	ENSP00000445145.1:p.Lys77Gln
ENST00000679404.1:c.463A>C	ENSP00000505252.1:p.Lys155Gln
ENST00000679587.1:c.538A>C	ENSP00000505396.1:p.Lys180Gln
ENST00000679601.1:c.*390A>C	ENSP00000506200.1:n.*390A>C
ENST00000679607.1:c.-300A>C	ENSP00000505148.1:n.-300A>C
ENST00000679654.1:c.*146A>C	ENSP00000505178.1:n.*146A>C
ENST00000679657.1:c.-32-12803A>C	ENSP00000505494.1:n.-32-12803A>C
ENST00000679666.1:c.166A>C	ENSP00000506469.1:p.Lys56Gln
ENST00000679739.1:c.123A>C	ENSP00000506703.1:p.Leu41Phe
ENST00000679872.1:c.487A>C	ENSP00000505607.1:p.Lys163Gln
ENST00000680414.1:c.*284A>C	ENSP00000506063.1:n.*284A>C
ENST00000680430.1:c.787A>C	ENSP00000504943.1:n.787A>C
ENST00000680994.1:n.568A>C
ENST00000681013.1:c.432A>C	ENSP00000506243.1:p.Leu144Phe
ENST00000681247.1:c.111A>C	ENSP00000505168.1:p.Leu37Phe
ENST00000681377.1:n.870A>C
ENST00000681380.1:c.538A>C	ENSP00000505402.1:p.Lys180Gln
ENST00000681655.1:c.463A>C	ENSP00000505036.1:p.Lys155Gln
XM_006713531.2:c.493A>C	XP_006713594.1:p.Lys165Gln
XM_006713532.2:c.493A>C	XP_006713595.1:p.Lys165Gln
XM_006713532.3:c.493A>C	XP_006713595.1:p.Lys165Gln
XM_011512532.1:c.502A>C	XP_011510834.1:p.Lys168Gln
XM_011512532.2:c.502A>C	XP_011510834.1:p.Lys168Gln
XM_011512533.1:c.502A>C	XP_011510835.1:p.Lys168Gln
XM_011512533.2:c.502A>C	XP_011510835.1:p.Lys168Gln
XM_011512534.1:c.493A>C	XP_011510836.1:p.Lys165Gln
XM_011512534.2:c.493A>C	XP_011510836.1:p.Lys165Gln
XM_011512535.1:c.463A>C	XP_011510837.1:p.Lys155Gln
XM_011512535.2:c.463A>C	XP_011510837.1:p.Lys155Gln
XM_011512536.1:c.229A>C	XP_011510838.1:p.Lys77Gln
XM_017005853.1:c.229A>C	XP_016861342.1:p.Lys77Gln