Canonical Allele Identifier: CA353677862

Gene: ARL13B

Linked Data

• gnomAD v4: 3-94035335-G-T
• MyVariant Identifiers: chr3:g.93754179G>T (hg19) ; chr3:g.94035335G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94035335G>T , CM000665.2:g.94035335G>T	GRCh38
NC_000003.11:g.93754179G>T , CM000665.1:g.93754179G>T	GRCh37
NC_000003.10:g.95236869G>T	NCBI36
NG_017076.1:g.60197G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394222.8:c.385G>T MANE Select	ENSP00000377769.3:p.Ala129Ser
ENST00000486562.2:c.64G>T	ENSP00000505366.1:p.Ala22Ser
ENST00000679404.1:c.310G>T	ENSP00000505252.1:p.Ala104Ser
ENST00000679587.1:c.385G>T	ENSP00000505396.1:p.Ala129Ser
ENST00000679601.1:c.*237G>T	ENSP00000506200.1:n.*237G>T
ENST00000679607.1:c.-453G>T	ENSP00000505148.1:n.-453G>T
ENST00000679654.1:c.257G>T	ENSP00000505178.1:p.Gly86Val
ENST00000679657.1:c.-32-14071G>T	ENSP00000505494.1:n.-32-14071G>T
ENST00000679666.1:c.13G>T	ENSP00000506469.1:p.Ala5Ser
ENST00000679739.1:c.72-1217G>T	ENSP00000506703.1:n.72-1217G>T
ENST00000679872.1:c.334G>T	ENSP00000505607.1:p.Ala112Ser
ENST00000680414.1:c.*233-1217G>T	ENSP00000506063.1:n.*233-1217G>T
ENST00000680430.1:c.634G>T	ENSP00000504943.1:n.634G>T
ENST00000680994.1:n.415G>T
ENST00000681013.1:c.381-1217G>T	ENSP00000506243.1:n.381-1217G>T
ENST00000681247.1:c.60-1217G>T	ENSP00000505168.1:n.60-1217G>T
ENST00000681380.1:c.385G>T	ENSP00000505402.1:p.Ala129Ser
ENST00000681655.1:c.310G>T	ENSP00000505036.1:p.Ala104Ser
ENST00000303097.11:c.64G>T	ENSP00000306225.7:p.Ala22Ser
ENST00000335438.7:c.*237G>T	ENSP00000335400.3:n.*237G>T
ENST00000394222.7:c.385G>T	ENSP00000377769.3:p.Ala129Ser
ENST00000460371.5:c.131-1217G>T	ENSP00000417263.1:n.131-1217G>T
ENST00000471138.5:c.385G>T	ENSP00000420780.1:p.Ala129Ser
ENST00000486562.1:n.341G>T
ENST00000535334.5:c.76G>T	ENSP00000445145.1:p.Ala26Ser
NM_001174150.1:c.385G>T	NP_001167621.1:p.Ala129Ser
NM_001174151.1:c.76G>T	NP_001167622.1:p.Ala26Ser
NM_144996.3:c.64G>T	NP_659433.2:p.Ala22Ser
NM_182896.2:c.385G>T	NP_878899.1:p.Ala129Ser
NR_033427.1:n.420G>T
XM_006713531.2:c.340G>T	XP_006713594.1:p.Ala114Ser
XM_006713532.2:c.340G>T	XP_006713595.1:p.Ala114Ser
XM_011512532.1:c.349G>T	XP_011510834.1:p.Ala117Ser
XM_011512533.1:c.349G>T	XP_011510835.1:p.Ala117Ser
XM_011512534.1:c.340G>T	XP_011510836.1:p.Ala114Ser
XM_011512535.1:c.310G>T	XP_011510837.1:p.Ala104Ser
XM_011512536.1:c.76G>T	XP_011510838.1:p.Ala26Ser
NM_001321328.1:c.340G>T	NP_001308257.1:p.Ala114Ser
NR_135621.1:n.416G>T
XM_006713532.3:c.340G>T	XP_006713595.1:p.Ala114Ser
XM_011512532.2:c.349G>T	XP_011510834.1:p.Ala117Ser
XM_011512533.2:c.349G>T	XP_011510835.1:p.Ala117Ser
XM_011512534.2:c.340G>T	XP_011510836.1:p.Ala114Ser
XM_011512535.2:c.310G>T	XP_011510837.1:p.Ala104Ser
XM_017005853.1:c.76G>T	XP_016861342.1:p.Ala26Ser
NM_001174150.2:c.385G>T MANE Select	NP_001167621.1:p.Ala129Ser
NM_001321328.2:c.340G>T	NP_001308257.1:p.Ala114Ser
NM_144996.4:c.64G>T	NP_659433.2:p.Ala22Ser
NM_182896.3:c.385G>T	NP_878899.1:p.Ala129Ser
NR_033427.2:n.404G>T
NR_135621.2:n.400G>T
NM_001174151.2:c.76G>T	NP_001167622.1:p.Ala26Ser