Canonical Allele Identifier: CA353679489

Gene: ARL13B DHFR2

Linked Data

• ClinVar Variation Id: 1359528
• ClinVar RCV Id: RCV001894493
• dbSNP Id: rs1466606984
• MyVariant Identifiers: chr3:g.93768319A>G (hg19) ; chr3:g.94049475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94049475A>G , CM000665.2:g.94049475A>G	GRCh38
NC_000003.11:g.93768319A>G , CM000665.1:g.93768319A>G	GRCh37
NC_000003.10:g.95251009A>G	NCBI36
NG_017076.1:g.74337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394222.8:c.1094A>G (ARL13B) MANE Select	ENSP00000377769.3:p.Asp365Gly
ENST00000486562.2:c.773A>G (ARL13B)	ENSP00000505366.1:p.Asp258Gly
ENST00000679404.1:c.1019A>G (ARL13B)	ENSP00000505252.1:p.Asp340Gly
ENST00000679587.1:c.1094A>G (ARL13B)	ENSP00000505396.1:p.Asp365Gly
ENST00000679601.1:c.*946A>G (ARL13B)	ENSP00000506200.1:n.*946A>G
ENST00000679607.1:c.257A>G (ARL13B)	ENSP00000505148.1:p.Asp86Gly
ENST00000679654.1:c.*702A>G (ARL13B)	ENSP00000505178.1:n.*702A>G
ENST00000679657.1:c.38A>G (ARL13B)	ENSP00000505494.1:p.Asp13Gly
ENST00000679666.1:c.722A>G (ARL13B)	ENSP00000506469.1:p.Asp241Gly
ENST00000679739.1:c.*502A>G (ARL13B)	ENSP00000506703.1:n.*502A>G
ENST00000679872.1:c.1043A>G (ARL13B)	ENSP00000505607.1:p.Asp348Gly
ENST00000680414.1:c.*840A>G (ARL13B)	ENSP00000506063.1:n.*840A>G
ENST00000680430.1:c.1343A>G (ARL13B)	ENSP00000504943.1:n.1343A>G
ENST00000680994.1:n.1124A>G (ARL13B)
ENST00000681013.1:c.*502A>G (ARL13B)	ENSP00000506243.1:n.*502A>G
ENST00000681247.1:c.*502A>G (ARL13B)	ENSP00000505168.1:n.*502A>G
ENST00000681377.1:n.1426A>G (ARL13B)
ENST00000681380.1:c.1181A>G (ARL13B)	ENSP00000505402.1:p.Asp394Gly
ENST00000681655.1:c.1019A>G (ARL13B)	ENSP00000505036.1:p.Asp340Gly
ENST00000303097.11:c.773A>G (ARL13B)	ENSP00000306225.7:p.Asp258Gly
ENST00000335438.7:c.*946A>G (ARL13B)	ENSP00000335400.3:n.*946A>G
ENST00000394222.7:c.1094A>G (ARL13B)	ENSP00000377769.3:p.Asp365Gly
ENST00000460371.5:c.*567A>G (ARL13B)	ENSP00000417263.1:n.*567A>G
ENST00000471138.5:c.1094A>G (ARL13B)	ENSP00000420780.1:p.Asp365Gly
ENST00000481631.1:n.290-1297T>C (DHFR2)
ENST00000535334.5:c.785A>G (ARL13B)	ENSP00000445145.1:p.Asp262Gly
NM_001174150.1:c.1094A>G (ARL13B)	NP_001167621.1:p.Asp365Gly
NM_001174151.1:c.785A>G (ARL13B)	NP_001167622.1:p.Asp262Gly
NM_144996.3:c.773A>G (ARL13B)	NP_659433.2:p.Asp258Gly
NM_182896.2:c.1094A>G (ARL13B)	NP_878899.1:p.Asp365Gly
NR_033427.1:n.1134A>G (ARL13B)
XM_006713531.2:c.1049A>G (ARL13B)	XP_006713594.1:p.Asp350Gly
XM_006713532.2:c.1049A>G (ARL13B)	XP_006713595.1:p.Asp350Gly
XM_011512532.1:c.1058A>G (ARL13B)	XP_011510834.1:p.Asp353Gly
XM_011512533.1:c.1058A>G (ARL13B)	XP_011510835.1:p.Asp353Gly
XM_011512534.1:c.1049A>G (ARL13B)	XP_011510836.1:p.Asp350Gly
XM_011512535.1:c.1019A>G (ARL13B)	XP_011510837.1:p.Asp340Gly
XM_011512536.1:c.785A>G (ARL13B)	XP_011510838.1:p.Asp262Gly
NM_001321328.1:c.1049A>G (ARL13B)	NP_001308257.1:p.Asp350Gly
NR_135621.1:n.1125A>G (ARL13B)
XM_006713532.3:c.1049A>G (ARL13B)	XP_006713595.1:p.Asp350Gly
XM_011512532.2:c.1058A>G (ARL13B)	XP_011510834.1:p.Asp353Gly
XM_011512533.2:c.1058A>G (ARL13B)	XP_011510835.1:p.Asp353Gly
XM_011512534.2:c.1049A>G (ARL13B)	XP_011510836.1:p.Asp350Gly
XM_011512535.2:c.1019A>G (ARL13B)	XP_011510837.1:p.Asp340Gly
XM_017005853.1:c.785A>G (ARL13B)	XP_016861342.1:p.Asp262Gly
NM_001174150.2:c.1094A>G (ARL13B) MANE Select	NP_001167621.1:p.Asp365Gly
NM_001321328.2:c.1049A>G (ARL13B)	NP_001308257.1:p.Asp350Gly
NM_144996.4:c.773A>G (ARL13B)	NP_659433.2:p.Asp258Gly
NM_182896.3:c.1094A>G (ARL13B)	NP_878899.1:p.Asp365Gly
NR_033427.2:n.1118A>G (ARL13B)
NR_135621.2:n.1109A>G (ARL13B)
NM_001174151.2:c.785A>G (ARL13B)	NP_001167622.1:p.Asp262Gly