Canonical Allele Identifier: CA824368796
Gene: TBC1D22B HGNC NCBI

Linked Data

dbSNP Id: rs1481024265
gnomAD v3: 6-37311097-C-G
gnomAD v4: 6-37311097-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.37311097C>G , CM000668.2:g.37311097C>G GRCh38
NC_000006.11:g.37278873C>G , CM000668.1:g.37278873C>G GRCh37
NC_000006.10:g.37386851C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373491.3:c.983-1821C>G MANE Select ENSP00000362590.3:n.983-1821C>G
NM_017772.3:c.983-1821C>G NP_060242.2:n.983-1821C>G
NR_130108.1:n.1258-1821C>G
XM_011514738.1:c.983-1821C>G XP_011513040.1:n.983-1821C>G
XM_011514739.1:c.983-1821C>G XP_011513041.1:n.983-1821C>G
XR_241906.1:n.1034-1821C>G
XR_427833.1:n.1149-1783C>G
XR_926270.1:n.1149-1783C>G
XM_011514738.3:c.983-1821C>G XP_011513040.1:n.983-1821C>G
XM_011514739.2:c.983-1821C>G XP_011513041.1:n.983-1821C>G
XR_241906.2:n.1014-1821C>G
XR_427833.2:n.1129-1783C>G
XR_926270.3:n.1129-1783C>G
NM_017772.4:c.983-1821C>G MANE Select NP_060242.2:n.983-1821C>G
NR_130108.2:n.1190-1821C>G