Canonical Allele Identifier: CA394381268

Gene: TBC1D24

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2500464C>A , CM000678.2:g.2500464C>A	GRCh38
NC_000016.9:g.2550465C>A , CM000678.1:g.2550465C>A	GRCh37
NC_000016.8:g.2490466C>A	NCBI36
NG_028170.1:g.30319C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567020.6:c.1481C>A	ENSP00000454408.1:p.Ala494Glu
ENST00000569874.2:c.1481C>A	ENSP00000455005.2:p.Ala494Glu
ENST00000646147.1:c.1499C>A MANE Select	ENSP00000494678.1:p.Ala500Glu
ENST00000293970.9:c.1499C>A	ENSP00000293970.5:p.Ala500Glu
ENST00000564543.1:c.965+3351C>A	ENSP00000455547.1:n.965+3351C>A
ENST00000564879.2:c.368C>A
ENST00000567020.5:c.1481C>A	ENSP00000454408.1:p.Ala494Glu
ENST00000627285.1:c.1481C>A	ENSP00000486121.1:p.Ala494Glu
ENST00000630263.2:c.*457C>A	ENSP00000486835.1:n.*457C>A
NM_001199107.1:c.1499C>A	NP_001186036.1:p.Ala500Glu
NM_020705.2:c.1481C>A	NP_065756.1:p.Ala494Glu
XM_017023493.1:c.1499C>A	XP_016878982.1:p.Ala500Glu
XM_017023494.1:c.1481C>A	XP_016878983.1:p.Ala494Glu
XM_017023495.1:c.1481C>A	XP_016878984.1:p.Ala494Glu
XR_001751956.1:n.1681C>A
NM_001199107.2:c.1499C>A MANE Select	NP_001186036.1:p.Ala500Glu
NM_020705.3:c.1481C>A	NP_065756.1:p.Ala494Glu