Canonical Allele Identifier: CA366684928

Gene: RBAK RBAK-RBAKDN

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5064831T>A , CM000669.2:g.5064831T>A	GRCh38
NC_000007.13:g.5104462T>A , CM000669.1:g.5104462T>A	GRCh37
NC_000007.12:g.5070988T>A	NCBI36
NG_047174.1:g.24011T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396912.2:c.1375T>A (RBAK) MANE Select	ENSP00000380120.1:p.Cys459Ser
ENST00000353796.7:c.1375T>A (RBAK)	ENSP00000275423.4:p.Cys459Ser
ENST00000396904.2:c.238+7052T>A (RBAK-RBAKDN)	ENSP00000380112.2:n.238+7052T>A
ENST00000396912.1:c.1375T>A (RBAK)	ENSP00000380120.1:p.Cys459Ser
ENST00000407184.5:c.299+1076T>A (RBAK-RBAKDN)	ENSP00000385560.1:n.299+1076T>A
NM_001204456.1:c.1375T>A (RBAK)	NP_001191385.1:p.Cys459Ser
NM_001204513.1:c.238+7052T>A (RBAK-RBAKDN)	NP_001191442.1:n.238+7052T>A
NM_021163.3:c.1375T>A (RBAK)	NP_066986.1:p.Cys459Ser
NM_001204513.2:c.238+7052T>A (RBAK-RBAKDN)	NP_001191442.1:n.238+7052T>A
NM_021163.4:c.1375T>A (RBAK) MANE Select	NP_066986.1:p.Cys459Ser
NM_001204456.2:c.1375T>A (RBAK)	NP_001191385.1:p.Cys459Ser
NM_001204513.3:c.238+7052T>A (RBAK-RBAKDN)	NP_001191442.1:n.238+7052T>A