Canonical Allele Identifier: CA7844010

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 506170
• ClinVar RCV Id: RCV000602701 ; RCV000796640
• dbSNP Id: rs772054145
• ExAC: 16:2546634 A / G
• gnomAD v2: 16-2546634-A-G
• gnomAD v4: 16-2496633-A-G
• MyVariant Identifiers: chr16:g.2546634A>G (hg19) ; chr16:g.2496633A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2496633A>G , CM000678.2:g.2496633A>G	GRCh38
NC_000016.9:g.2546634A>G , CM000678.1:g.2546634A>G	GRCh37
NC_000016.8:g.2486635A>G	NCBI36
NG_028170.1:g.26488A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000562105.2:c.485A>G	ENSP00000457896.2:p.Asn162Ser
ENST00000567020.6:c.485A>G	ENSP00000454408.1:p.Asn162Ser
ENST00000569874.2:c.485A>G	ENSP00000455005.2:p.Asn162Ser
ENST00000643767.1:c.485A>G	ENSP00000494145.1:p.Asn162Ser
ENST00000646147.1:c.485A>G MANE Select	ENSP00000494678.1:p.Asn162Ser
ENST00000293970.9:c.485A>G	ENSP00000293970.5:p.Asn162Ser
ENST00000564543.1:c.485A>G	ENSP00000455547.1:p.Asn162Ser
ENST00000567020.5:c.485A>G	ENSP00000454408.1:p.Asn162Ser
ENST00000627285.1:c.485A>G	ENSP00000486121.1:p.Asn162Ser
ENST00000630263.2:c.485A>G	ENSP00000486835.1:p.Asn162Ser
NM_001199107.1:c.485A>G	NP_001186036.1:p.Asn162Ser
NM_020705.2:c.485A>G	NP_065756.1:p.Asn162Ser
XM_017023493.1:c.485A>G	XP_016878982.1:p.Asn162Ser
XM_017023494.1:c.485A>G	XP_016878983.1:p.Asn162Ser
XM_017023495.1:c.485A>G	XP_016878984.1:p.Asn162Ser
XR_001751956.1:n.667A>G
NM_001199107.2:c.485A>G MANE Select	NP_001186036.1:p.Asn162Ser
NM_020705.3:c.485A>G	NP_065756.1:p.Asn162Ser