Canonical Allele Identifier: CA394377121
Gene: TBC1D24 HGNC NCBI

Linked Data

dbSNP Id: rs1216265077
gnomAD v2: 16-2546894-A-G
gnomAD v4: 16-2496893-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2496893A>G , CM000678.2:g.2496893A>G GRCh38
NC_000016.9:g.2546894A>G , CM000678.1:g.2546894A>G GRCh37
NC_000016.8:g.2486895A>G NCBI36
NG_028170.1:g.26748A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000562105.2:c.745A>G ENSP00000457896.2:p.Lys249Glu
ENST00000567020.6:c.745A>G ENSP00000454408.1:p.Lys249Glu
ENST00000569874.2:c.745A>G ENSP00000455005.2:p.Lys249Glu
ENST00000643767.1:c.745A>G ENSP00000494145.1:p.Lys249Glu
ENST00000646147.1:c.745A>G MANE Select ENSP00000494678.1:p.Lys249Glu
ENST00000293970.9:c.745A>G ENSP00000293970.5:p.Lys249Glu
ENST00000564543.1:c.745A>G ENSP00000455547.1:p.Lys249Glu
ENST00000567020.5:c.745A>G ENSP00000454408.1:p.Lys249Glu
ENST00000627285.1:c.745A>G ENSP00000486121.1:p.Lys249Glu
ENST00000630263.2:c.745A>G ENSP00000486835.1:p.Lys249Glu
NM_001199107.1:c.745A>G NP_001186036.1:p.Lys249Glu
NM_020705.2:c.745A>G NP_065756.1:p.Lys249Glu
XM_017023493.1:c.745A>G XP_016878982.1:p.Lys249Glu
XM_017023494.1:c.745A>G XP_016878983.1:p.Lys249Glu
XM_017023495.1:c.745A>G XP_016878984.1:p.Lys249Glu
XR_001751956.1:n.927A>G
NM_001199107.2:c.745A>G MANE Select NP_001186036.1:p.Lys249Glu
NM_020705.3:c.745A>G NP_065756.1:p.Lys249Glu