Canonical Allele Identifier: CA394377072
Gene: TBC1D24 HGNC NCBI

Linked Data

ClinVar Variation Id: 574391
ClinVar RCV Id: RCV000696311
dbSNP Id: rs375873110
gnomAD v4: 16-2496879-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2496879C>A , CM000678.2:g.2496879C>A GRCh38
NC_000016.9:g.2546880C>A , CM000678.1:g.2546880C>A GRCh37
NC_000016.8:g.2486881C>A NCBI36
NG_028170.1:g.26734C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000562105.2:c.731C>A ENSP00000457896.2:p.Ala244Glu
ENST00000567020.6:c.731C>A ENSP00000454408.1:p.Ala244Glu
ENST00000569874.2:c.731C>A ENSP00000455005.2:p.Ala244Glu
ENST00000643767.1:c.731C>A ENSP00000494145.1:p.Ala244Glu
ENST00000646147.1:c.731C>A MANE Select ENSP00000494678.1:p.Ala244Glu
ENST00000293970.9:c.731C>A ENSP00000293970.5:p.Ala244Glu
ENST00000564543.1:c.731C>A ENSP00000455547.1:p.Ala244Glu
ENST00000567020.5:c.731C>A ENSP00000454408.1:p.Ala244Glu
ENST00000627285.1:c.731C>A ENSP00000486121.1:p.Ala244Glu
ENST00000630263.2:c.731C>A ENSP00000486835.1:p.Ala244Glu
NM_001199107.1:c.731C>A NP_001186036.1:p.Ala244Glu
NM_020705.2:c.731C>A NP_065756.1:p.Ala244Glu
XM_017023493.1:c.731C>A XP_016878982.1:p.Ala244Glu
XM_017023494.1:c.731C>A XP_016878983.1:p.Ala244Glu
XM_017023495.1:c.731C>A XP_016878984.1:p.Ala244Glu
XR_001751956.1:n.913C>A
NM_001199107.2:c.731C>A MANE Select NP_001186036.1:p.Ala244Glu
NM_020705.3:c.731C>A NP_065756.1:p.Ala244Glu