Canonical Allele Identifier: CA394376652
Gene: TBC1D24 HGNC NCBI

Linked Data

dbSNP Id: rs1477986757
gnomAD v2: 16-2546729-G-A
gnomAD v4: 16-2496728-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2496728G>A , CM000678.2:g.2496728G>A GRCh38
NC_000016.9:g.2546729G>A , CM000678.1:g.2546729G>A GRCh37
NC_000016.8:g.2486730G>A NCBI36
NG_028170.1:g.26583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000562105.2:c.580G>A ENSP00000457896.2:p.Ala194Thr
ENST00000567020.6:c.580G>A ENSP00000454408.1:p.Ala194Thr
ENST00000569874.2:c.580G>A ENSP00000455005.2:p.Ala194Thr
ENST00000643767.1:c.580G>A ENSP00000494145.1:p.Ala194Thr
ENST00000646147.1:c.580G>A MANE Select ENSP00000494678.1:p.Ala194Thr
ENST00000293970.9:c.580G>A ENSP00000293970.5:p.Ala194Thr
ENST00000564543.1:c.580G>A ENSP00000455547.1:p.Ala194Thr
ENST00000567020.5:c.580G>A ENSP00000454408.1:p.Ala194Thr
ENST00000627285.1:c.580G>A ENSP00000486121.1:p.Ala194Thr
ENST00000630263.2:c.580G>A ENSP00000486835.1:p.Ala194Thr
NM_001199107.1:c.580G>A NP_001186036.1:p.Ala194Thr
NM_020705.2:c.580G>A NP_065756.1:p.Ala194Thr
XM_017023493.1:c.580G>A XP_016878982.1:p.Ala194Thr
XM_017023494.1:c.580G>A XP_016878983.1:p.Ala194Thr
XM_017023495.1:c.580G>A XP_016878984.1:p.Ala194Thr
XR_001751956.1:n.762G>A
NM_001199107.2:c.580G>A MANE Select NP_001186036.1:p.Ala194Thr
NM_020705.3:c.580G>A NP_065756.1:p.Ala194Thr