Canonical Allele Identifier: CA7844292

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 662069
• ClinVar RCV Id: RCV000819630 ; RCV002537442 ; RCV001256122 ; RCV001759600
• dbSNP Id: rs773304369
• ExAC: 16:2550392 G / A
• gnomAD v2: 16-2550392-G-A
• gnomAD v3: 16-2500391-G-A
• gnomAD v4: 16-2500391-G-A
• MyVariant Identifiers: chr16:g.2550392G>A (hg19) ; chr16:g.2500391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2500391G>A , CM000678.2:g.2500391G>A	GRCh38
NC_000016.9:g.2550392G>A , CM000678.1:g.2550392G>A	GRCh37
NC_000016.8:g.2490393G>A	NCBI36
NG_028170.1:g.30246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567020.6:c.1408G>A	ENSP00000454408.1:p.Ala470Thr
ENST00000569874.2:c.1408G>A	ENSP00000455005.2:p.Ala470Thr
ENST00000646147.1:c.1426G>A MANE Select	ENSP00000494678.1:p.Ala476Thr
ENST00000293970.9:c.1426G>A	ENSP00000293970.5:p.Ala476Thr
ENST00000564543.1:c.965+3278G>A	ENSP00000455547.1:n.965+3278G>A
ENST00000564879.2:c.295G>A
ENST00000567020.5:c.1408G>A	ENSP00000454408.1:p.Ala470Thr
ENST00000627285.1:c.1408G>A	ENSP00000486121.1:p.Ala470Thr
ENST00000630263.2:c.*384G>A	ENSP00000486835.1:n.*384G>A
NM_001199107.1:c.1426G>A	NP_001186036.1:p.Ala476Thr
NM_020705.2:c.1408G>A	NP_065756.1:p.Ala470Thr
XM_017023493.1:c.1426G>A	XP_016878982.1:p.Ala476Thr
XM_017023494.1:c.1408G>A	XP_016878983.1:p.Ala470Thr
XM_017023495.1:c.1408G>A	XP_016878984.1:p.Ala470Thr
XR_001751956.1:n.1608G>A
NM_001199107.2:c.1426G>A MANE Select	NP_001186036.1:p.Ala476Thr
NM_020705.3:c.1408G>A	NP_065756.1:p.Ala470Thr