Canonical Allele Identifier: CA394375409
Gene: TBC1D24 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306921
ClinVar RCV Id: RCV001772379
dbSNP Id: rs1433544007

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2496447A>T , CM000678.2:g.2496447A>T GRCh38
NC_000016.9:g.2546448A>T , CM000678.1:g.2546448A>T GRCh37
NC_000016.8:g.2486449A>T NCBI36
NG_028170.1:g.26302A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000562105.2:c.299A>T ENSP00000457896.2:p.Gln100Leu
ENST00000567020.6:c.299A>T ENSP00000454408.1:p.Gln100Leu
ENST00000569874.2:c.299A>T ENSP00000455005.2:p.Gln100Leu
ENST00000643767.1:c.299A>T ENSP00000494145.1:p.Gln100Leu
ENST00000646147.1:c.299A>T MANE Select ENSP00000494678.1:p.Gln100Leu
ENST00000293970.9:c.299A>T ENSP00000293970.5:p.Gln100Leu
ENST00000564543.1:c.299A>T ENSP00000455547.1:p.Gln100Leu
ENST00000567020.5:c.299A>T ENSP00000454408.1:p.Gln100Leu
ENST00000627285.1:c.299A>T ENSP00000486121.1:p.Gln100Leu
ENST00000630263.2:c.299A>T ENSP00000486835.1:p.Gln100Leu
NM_001199107.1:c.299A>T NP_001186036.1:p.Gln100Leu
NM_020705.2:c.299A>T NP_065756.1:p.Gln100Leu
XM_017023493.1:c.299A>T XP_016878982.1:p.Gln100Leu
XM_017023494.1:c.299A>T XP_016878983.1:p.Gln100Leu
XM_017023495.1:c.299A>T XP_016878984.1:p.Gln100Leu
XR_001751956.1:n.481A>T
NM_001199107.2:c.299A>T MANE Select NP_001186036.1:p.Gln100Leu
NM_020705.3:c.299A>T NP_065756.1:p.Gln100Leu