Canonical Allele Identifier: CA7843954

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 655487
• ClinVar RCV Id: RCV000811679 ; RCV001576610 ; RCV002424907 ; RCV002495125
• dbSNP Id: rs370078844
• ExAC: 16:2546366 G / A
• gnomAD v2: 16-2546366-G-A
• gnomAD v3: 16-2496365-G-A
• gnomAD v4: 16-2496365-G-A
• MyVariant Identifiers: chr16:g.2546366G>A (hg19) ; chr16:g.2496365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2496365G>A , CM000678.2:g.2496365G>A	GRCh38
NC_000016.9:g.2546366G>A , CM000678.1:g.2546366G>A	GRCh37
NC_000016.8:g.2486367G>A	NCBI36
NG_028170.1:g.26220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562105.2:c.217G>A	ENSP00000457896.2:p.Val73Met
ENST00000567020.6:c.217G>A	ENSP00000454408.1:p.Val73Met
ENST00000569874.2:c.217G>A	ENSP00000455005.2:p.Val73Met
ENST00000643767.1:c.217G>A	ENSP00000494145.1:p.Val73Met
ENST00000646147.1:c.217G>A MANE Select	ENSP00000494678.1:p.Val73Met
ENST00000293970.9:c.217G>A	ENSP00000293970.5:p.Val73Met
ENST00000564543.1:c.217G>A	ENSP00000455547.1:p.Val73Met
ENST00000567020.5:c.217G>A	ENSP00000454408.1:p.Val73Met
ENST00000627285.1:c.217G>A	ENSP00000486121.1:p.Val73Met
ENST00000630263.2:c.217G>A	ENSP00000486835.1:p.Val73Met
NM_001199107.1:c.217G>A	NP_001186036.1:p.Val73Met
NM_020705.2:c.217G>A	NP_065756.1:p.Val73Met
XM_017023493.1:c.217G>A	XP_016878982.1:p.Val73Met
XM_017023494.1:c.217G>A	XP_016878983.1:p.Val73Met
XM_017023495.1:c.217G>A	XP_016878984.1:p.Val73Met
XR_001751956.1:n.399G>A
NM_001199107.2:c.217G>A MANE Select	NP_001186036.1:p.Val73Met
NM_020705.3:c.217G>A	NP_065756.1:p.Val73Met