Canonical Allele Identifier: CA394376884
Gene: TBC1D24 HGNC NCBI

Linked Data

dbSNP Id: rs928366699
gnomAD v2: 16-2546824-C-A
gnomAD v4: 16-2496823-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2496823C>A , CM000678.2:g.2496823C>A GRCh38
NC_000016.9:g.2546824C>A , CM000678.1:g.2546824C>A GRCh37
NC_000016.8:g.2486825C>A NCBI36
NG_028170.1:g.26678C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000562105.2:c.675C>A ENSP00000457896.2:p.Phe225Leu
ENST00000567020.6:c.675C>A ENSP00000454408.1:p.Phe225Leu
ENST00000569874.2:c.675C>A ENSP00000455005.2:p.Phe225Leu
ENST00000643767.1:c.675C>A ENSP00000494145.1:p.Phe225Leu
ENST00000646147.1:c.675C>A MANE Select ENSP00000494678.1:p.Phe225Leu
ENST00000293970.9:c.675C>A ENSP00000293970.5:p.Phe225Leu
ENST00000564543.1:c.675C>A ENSP00000455547.1:p.Phe225Leu
ENST00000567020.5:c.675C>A ENSP00000454408.1:p.Phe225Leu
ENST00000627285.1:c.675C>A ENSP00000486121.1:p.Phe225Leu
ENST00000630263.2:c.675C>A ENSP00000486835.1:p.Phe225Leu
NM_001199107.1:c.675C>A NP_001186036.1:p.Phe225Leu
NM_020705.2:c.675C>A NP_065756.1:p.Phe225Leu
XM_017023493.1:c.675C>A XP_016878982.1:p.Phe225Leu
XM_017023494.1:c.675C>A XP_016878983.1:p.Phe225Leu
XM_017023495.1:c.675C>A XP_016878984.1:p.Phe225Leu
XR_001751956.1:n.857C>A
NM_001199107.2:c.675C>A MANE Select NP_001186036.1:p.Phe225Leu
NM_020705.3:c.675C>A NP_065756.1:p.Phe225Leu