Canonical Allele Identifier: CA1087953503
Gene: TBC1D22B HGNC NCBI

Linked Data

dbSNP Id: rs1767899859
gnomAD v3: 6-37311181-G-A
gnomAD v4: 6-37311181-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.37311181G>A , CM000668.2:g.37311181G>A GRCh38
NC_000006.11:g.37278957G>A , CM000668.1:g.37278957G>A GRCh37
NC_000006.10:g.37386935G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000373491.3:c.983-1737G>A MANE Select ENSP00000362590.3:n.983-1737G>A
NM_017772.3:c.983-1737G>A NP_060242.2:n.983-1737G>A
NR_130108.1:n.1258-1737G>A
XM_011514738.1:c.983-1737G>A XP_011513040.1:n.983-1737G>A
XM_011514739.1:c.983-1737G>A XP_011513041.1:n.983-1737G>A
XR_241906.1:n.1034-1737G>A
XR_427833.1:n.1149-1699G>A
XR_926270.1:n.1149-1699G>A
XM_011514738.3:c.983-1737G>A XP_011513040.1:n.983-1737G>A
XM_011514739.2:c.983-1737G>A XP_011513041.1:n.983-1737G>A
XR_241906.2:n.1014-1737G>A
XR_427833.2:n.1129-1699G>A
XR_926270.3:n.1129-1699G>A
NM_017772.4:c.983-1737G>A MANE Select NP_060242.2:n.983-1737G>A
NR_130108.2:n.1190-1737G>A