Canonical Allele Identifier: CA1087953479

Gene: TBC1D22B

Linked Data

• dbSNP Id: rs1767895200
• gnomAD v3: 6-37311054-G-A
• gnomAD v4: 6-37311054-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37311054G>A , CM000668.2:g.37311054G>A	GRCh38
NC_000006.11:g.37278830G>A , CM000668.1:g.37278830G>A	GRCh37
NC_000006.10:g.37386808G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373491.3:c.983-1864G>A MANE Select	ENSP00000362590.3:n.983-1864G>A
NM_017772.3:c.983-1864G>A	NP_060242.2:n.983-1864G>A
NR_130108.1:n.1258-1864G>A
XM_011514738.1:c.983-1864G>A	XP_011513040.1:n.983-1864G>A
XM_011514739.1:c.983-1864G>A	XP_011513041.1:n.983-1864G>A
XR_241906.1:n.1034-1864G>A
XR_427833.1:n.1149-1826G>A
XR_926270.1:n.1149-1826G>A
XM_011514738.3:c.983-1864G>A	XP_011513040.1:n.983-1864G>A
XM_011514739.2:c.983-1864G>A	XP_011513041.1:n.983-1864G>A
XR_241906.2:n.1014-1864G>A
XR_427833.2:n.1129-1826G>A
XR_926270.3:n.1129-1826G>A
NM_017772.4:c.983-1864G>A MANE Select	NP_060242.2:n.983-1864G>A
NR_130108.2:n.1190-1864G>A