Canonical Allele Identifier: CA824368865
Gene: TBC1D22B HGNC NCBI

Linked Data

dbSNP Id: rs1255508734
gnomAD v3: 6-37311196-T-A
gnomAD v4: 6-37311196-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.37311196T>A , CM000668.2:g.37311196T>A GRCh38
NC_000006.11:g.37278972T>A , CM000668.1:g.37278972T>A GRCh37
NC_000006.10:g.37386950T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000373491.3:c.983-1722T>A MANE Select ENSP00000362590.3:n.983-1722T>A
NM_017772.3:c.983-1722T>A NP_060242.2:n.983-1722T>A
NR_130108.1:n.1258-1722T>A
XM_011514738.1:c.983-1722T>A XP_011513040.1:n.983-1722T>A
XM_011514739.1:c.983-1722T>A XP_011513041.1:n.983-1722T>A
XR_241906.1:n.1034-1722T>A
XR_427833.1:n.1149-1684T>A
XR_926270.1:n.1149-1684T>A
XM_011514738.3:c.983-1722T>A XP_011513040.1:n.983-1722T>A
XM_011514739.2:c.983-1722T>A XP_011513041.1:n.983-1722T>A
XR_241906.2:n.1014-1722T>A
XR_427833.2:n.1129-1684T>A
XR_926270.3:n.1129-1684T>A
NM_017772.4:c.983-1722T>A MANE Select NP_060242.2:n.983-1722T>A
NR_130108.2:n.1190-1722T>A