Canonical Allele Identifier: CA394374471

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 1043816
• ClinVar RCV Id: RCV001347979
• dbSNP Id: rs2065736000
• gnomAD v4: 16-2496236-A-G
• MyVariant Identifiers: chr16:g.2546237A>G (hg19) ; chr16:g.2496236A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2496236A>G , CM000678.2:g.2496236A>G	GRCh38
NC_000016.9:g.2546237A>G , CM000678.1:g.2546237A>G	GRCh37
NC_000016.8:g.2486238A>G	NCBI36
NG_028170.1:g.26091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562105.2:c.88A>G	ENSP00000457896.2:p.Thr30Ala
ENST00000567020.6:c.88A>G	ENSP00000454408.1:p.Thr30Ala
ENST00000569874.2:c.88A>G	ENSP00000455005.2:p.Thr30Ala
ENST00000643767.1:c.88A>G	ENSP00000494145.1:p.Thr30Ala
ENST00000646147.1:c.88A>G MANE Select	ENSP00000494678.1:p.Thr30Ala
ENST00000293970.9:c.88A>G	ENSP00000293970.5:p.Thr30Ala
ENST00000562105.1:c.88A>G	ENSP00000457896.1:p.Thr30Ala
ENST00000564543.1:c.88A>G	ENSP00000455547.1:p.Thr30Ala
ENST00000567020.5:c.88A>G	ENSP00000454408.1:p.Thr30Ala
ENST00000627285.1:c.88A>G	ENSP00000486121.1:p.Thr30Ala
ENST00000630263.2:c.88A>G	ENSP00000486835.1:p.Thr30Ala
NM_001199107.1:c.88A>G	NP_001186036.1:p.Thr30Ala
NM_020705.2:c.88A>G	NP_065756.1:p.Thr30Ala
XM_017023493.1:c.88A>G	XP_016878982.1:p.Thr30Ala
XM_017023494.1:c.88A>G	XP_016878983.1:p.Thr30Ala
XM_017023495.1:c.88A>G	XP_016878984.1:p.Thr30Ala
XR_001751956.1:n.270A>G
NM_001199107.2:c.88A>G MANE Select	NP_001186036.1:p.Thr30Ala
NM_020705.3:c.88A>G	NP_065756.1:p.Thr30Ala