Canonical Allele Identifier: CA319025
Gene: TBC1D24 HGNC NCBI

Linked Data

ClinVar Variation Id: 91395
dbSNP Id: rs398122965
gnomAD v2: 16-2546873-C-T
gnomAD v3: 16-2496872-C-T
gnomAD v4: 16-2496872-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2496872C>T , CM000678.2:g.2496872C>T GRCh38
NC_000016.9:g.2546873C>T , CM000678.1:g.2546873C>T GRCh37
NC_000016.8:g.2486874C>T NCBI36
NG_028170.1:g.26727C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000562105.2:c.724C>T ENSP00000457896.2:p.Arg242Cys
ENST00000567020.6:c.724C>T ENSP00000454408.1:p.Arg242Cys
ENST00000569874.2:c.724C>T ENSP00000455005.2:p.Arg242Cys
ENST00000643767.1:c.724C>T ENSP00000494145.1:p.Arg242Cys
ENST00000646147.1:c.724C>T MANE Select ENSP00000494678.1:p.Arg242Cys
ENST00000293970.9:c.724C>T ENSP00000293970.5:p.Arg242Cys
ENST00000564543.1:c.724C>T ENSP00000455547.1:p.Arg242Cys
ENST00000567020.5:c.724C>T ENSP00000454408.1:p.Arg242Cys
ENST00000627285.1:c.724C>T ENSP00000486121.1:p.Arg242Cys
ENST00000630263.2:c.724C>T ENSP00000486835.1:p.Arg242Cys
NM_001199107.1:c.724C>T NP_001186036.1:p.Arg242Cys
NM_020705.2:c.724C>T NP_065756.1:p.Arg242Cys
XM_017023493.1:c.724C>T XP_016878982.1:p.Arg242Cys
XM_017023494.1:c.724C>T XP_016878983.1:p.Arg242Cys
XM_017023495.1:c.724C>T XP_016878984.1:p.Arg242Cys
XR_001751956.1:n.906C>T
NM_001199107.2:c.724C>T MANE Select NP_001186036.1:p.Arg242Cys
NM_020705.3:c.724C>T NP_065756.1:p.Arg242Cys