Canonical Allele Identifier: CA276809595

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 514549
• ClinVar RCV Id: RCV000602157
• dbSNP Id: rs891836551
• MyVariant Identifiers: chr16:g.2546018T>C (hg19) ; chr16:g.2496017T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2496017T>C , CM000678.2:g.2496017T>C	GRCh38
NC_000016.9:g.2546018T>C , CM000678.1:g.2546018T>C	GRCh37
NC_000016.8:g.2486019T>C	NCBI36
NG_028170.1:g.25872T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562105.2:c.-115-17T>C	ENSP00000457896.2:n.-115-17T>C
ENST00000567020.6:c.-115-17T>C	ENSP00000454408.1:n.-115-17T>C
ENST00000569874.2:c.-115-17T>C	ENSP00000455005.2:n.-115-17T>C
ENST00000643767.1:c.-115-17T>C	ENSP00000494145.1:n.-115-17T>C
ENST00000646147.1:c.-115-17T>C MANE Select	ENSP00000494678.1:n.-115-17T>C
ENST00000293970.9:c.-115-17T>C	ENSP00000293970.5:n.-115-17T>C
ENST00000562105.1:c.-115-17T>C	ENSP00000457896.1:n.-115-17T>C
ENST00000567020.5:c.-115-17T>C	ENSP00000454408.1:n.-115-17T>C
ENST00000627285.1:c.-115-17T>C	ENSP00000486121.1:n.-115-17T>C
ENST00000630263.2:c.-31-101T>C	ENSP00000486835.1:n.-31-101T>C
NM_001199107.1:c.-115-17T>C	NP_001186036.1:n.-115-17T>C
NM_020705.2:c.-115-17T>C	NP_065756.1:n.-115-17T>C
XM_017023493.1:c.-115-17T>C	XP_016878982.1:n.-115-17T>C
XM_017023494.1:c.-115-17T>C	XP_016878983.1:n.-115-17T>C
XM_017023495.1:c.-115-17T>C	XP_016878984.1:n.-115-17T>C
XR_001751956.1:n.68-17T>C
NM_001199107.2:c.-115-17T>C MANE Select	NP_001186036.1:n.-115-17T>C
NM_020705.3:c.-115-17T>C	NP_065756.1:n.-115-17T>C