Canonical Allele Identifier: CA366685841

Gene: RBAK RBAK-RBAKDN

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5065189A>G , CM000669.2:g.5065189A>G	GRCh38
NC_000007.13:g.5104820A>G , CM000669.1:g.5104820A>G	GRCh37
NC_000007.12:g.5071346A>G	NCBI36
NG_047174.1:g.24369A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396912.2:c.1733A>G (RBAK) MANE Select	ENSP00000380120.1:p.His578Arg
ENST00000353796.7:c.1733A>G (RBAK)	ENSP00000275423.4:p.His578Arg
ENST00000396904.2:c.239-7173A>G (RBAK-RBAKDN)	ENSP00000380112.2:n.239-7173A>G
ENST00000396912.1:c.1733A>G (RBAK)	ENSP00000380120.1:p.His578Arg
ENST00000407184.5:c.299+1434A>G (RBAK-RBAKDN)	ENSP00000385560.1:n.299+1434A>G
NM_001204456.1:c.1733A>G (RBAK)	NP_001191385.1:p.His578Arg
NM_001204513.1:c.239-7173A>G (RBAK-RBAKDN)	NP_001191442.1:n.239-7173A>G
NM_021163.3:c.1733A>G (RBAK)	NP_066986.1:p.His578Arg
NM_001204513.2:c.239-7173A>G (RBAK-RBAKDN)	NP_001191442.1:n.239-7173A>G
NM_021163.4:c.1733A>G (RBAK) MANE Select	NP_066986.1:p.His578Arg
NM_001204456.2:c.1733A>G (RBAK)	NP_001191385.1:p.His578Arg
NM_001204513.3:c.239-7173A>G (RBAK-RBAKDN)	NP_001191442.1:n.239-7173A>G