Canonical Allele Identifier: CA7843965

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 425088
• ClinVar RCV Id: RCV000487982 ; RCV002063826 ; RCV002313261
• dbSNP Id: rs774354974
• ExAC: 16:2546434 C / T
• gnomAD v2: 16-2546434-C-T
• gnomAD v3: 16-2496433-C-T
• gnomAD v4: 16-2496433-C-T
• MyVariant Identifiers: chr16:g.2546434C>T (hg19) ; chr16:g.2496433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2496433C>T , CM000678.2:g.2496433C>T	GRCh38
NC_000016.9:g.2546434C>T , CM000678.1:g.2546434C>T	GRCh37
NC_000016.8:g.2486435C>T	NCBI36
NG_028170.1:g.26288C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562105.2:c.285C>T	ENSP00000457896.2:p.Phe95=
ENST00000567020.6:c.285C>T	ENSP00000454408.1:p.Phe95=
ENST00000569874.2:c.285C>T	ENSP00000455005.2:p.Phe95=
ENST00000643767.1:c.285C>T	ENSP00000494145.1:p.Phe95=
ENST00000646147.1:c.285C>T MANE Select	ENSP00000494678.1:p.Phe95=
ENST00000293970.9:c.285C>T	ENSP00000293970.5:p.Phe95=
ENST00000564543.1:c.285C>T	ENSP00000455547.1:p.Phe95=
ENST00000567020.5:c.285C>T	ENSP00000454408.1:p.Phe95=
ENST00000627285.1:c.285C>T	ENSP00000486121.1:p.Phe95=
ENST00000630263.2:c.285C>T	ENSP00000486835.1:p.Phe95=
NM_001199107.1:c.285C>T	NP_001186036.1:p.Phe95=
NM_020705.2:c.285C>T	NP_065756.1:p.Phe95=
XM_017023493.1:c.285C>T	XP_016878982.1:p.Phe95=
XM_017023494.1:c.285C>T	XP_016878983.1:p.Phe95=
XM_017023495.1:c.285C>T	XP_016878984.1:p.Phe95=
XR_001751956.1:n.467C>T
NM_001199107.2:c.285C>T MANE Select	NP_001186036.1:p.Phe95=
NM_020705.3:c.285C>T	NP_065756.1:p.Phe95=