Canonical Allele Identifier: CA366685175

Gene: RBAK RBAK-RBAKDN

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5064937C>T , CM000669.2:g.5064937C>T	GRCh38
NC_000007.13:g.5104568C>T , CM000669.1:g.5104568C>T	GRCh37
NC_000007.12:g.5071094C>T	NCBI36
NG_047174.1:g.24117C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021163.4:c.1481C>T (RBAK) MANE Select	NP_066986.1:p.Ser494Phe
ENST00000396912.2:c.1481C>T (RBAK) MANE Select	ENSP00000380120.1:p.Ser494Phe
NM_001204456.1:c.1481C>T (RBAK)	NP_001191385.1:p.Ser494Phe
NM_001204456.2:c.1481C>T (RBAK)	NP_001191385.1:p.Ser494Phe
NM_001204513.1:c.238+7158C>T (RBAK-RBAKDN)	NP_001191442.1:n.238+7158C>T
NM_001204513.2:c.238+7158C>T (RBAK-RBAKDN)	NP_001191442.1:n.238+7158C>T
NM_001204513.3:c.238+7158C>T (RBAK-RBAKDN)	NP_001191442.1:n.238+7158C>T
NM_021163.3:c.1481C>T (RBAK)	NP_066986.1:p.Ser494Phe
ENST00000353796.7:c.1481C>T (RBAK)	ENSP00000275423.4:p.Ser494Phe
ENST00000396904.2:c.238+7158C>T (RBAK-RBAKDN)	ENSP00000380112.2:n.238+7158C>T
ENST00000396912.1:c.1481C>T (RBAK)	ENSP00000380120.1:p.Ser494Phe
ENST00000407184.5:c.299+1182C>T (RBAK-RBAKDN)	ENSP00000385560.1:n.299+1182C>T