Canonical Allele Identifier: CA137482763
Gene: TBC1D22B HGNC NCBI

Linked Data

dbSNP Id: rs911770963
gnomAD v3: 6-37311080-T-C
gnomAD v4: 6-37311080-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.37311080T>C , CM000668.2:g.37311080T>C GRCh38
NC_000006.11:g.37278856T>C , CM000668.1:g.37278856T>C GRCh37
NC_000006.10:g.37386834T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000373491.3:c.983-1838T>C MANE Select ENSP00000362590.3:n.983-1838T>C
NM_017772.3:c.983-1838T>C NP_060242.2:n.983-1838T>C
NR_130108.1:n.1258-1838T>C
XM_011514738.1:c.983-1838T>C XP_011513040.1:n.983-1838T>C
XM_011514739.1:c.983-1838T>C XP_011513041.1:n.983-1838T>C
XR_241906.1:n.1034-1838T>C
XR_427833.1:n.1149-1800T>C
XR_926270.1:n.1149-1800T>C
XM_011514738.3:c.983-1838T>C XP_011513040.1:n.983-1838T>C
XM_011514739.2:c.983-1838T>C XP_011513041.1:n.983-1838T>C
XR_241906.2:n.1014-1838T>C
XR_427833.2:n.1129-1800T>C
XR_926270.3:n.1129-1800T>C
NM_017772.4:c.983-1838T>C MANE Select NP_060242.2:n.983-1838T>C
NR_130108.2:n.1190-1838T>C