Canonical Allele Identifier: CA4140911

Gene: RBAK RBAK-RBAKDN

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5064217C>T , CM000669.2:g.5064217C>T	GRCh38
NC_000007.13:g.5103848C>T , CM000669.1:g.5103848C>T	GRCh37
NC_000007.12:g.5070374C>T	NCBI36
NG_047174.1:g.23397C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021163.4:c.761C>T (RBAK) MANE Select	NP_066986.1:p.Ser254Leu
ENST00000396912.2:c.761C>T (RBAK) MANE Select	ENSP00000380120.1:p.Ser254Leu
NM_001204456.1:c.761C>T (RBAK)	NP_001191385.1:p.Ser254Leu
NM_001204456.2:c.761C>T (RBAK)	NP_001191385.1:p.Ser254Leu
NM_001204513.1:c.238+6438C>T (RBAK-RBAKDN)	NP_001191442.1:n.238+6438C>T
NM_001204513.2:c.238+6438C>T (RBAK-RBAKDN)	NP_001191442.1:n.238+6438C>T
NM_001204513.3:c.238+6438C>T (RBAK-RBAKDN)	NP_001191442.1:n.238+6438C>T
NM_021163.3:c.761C>T (RBAK)	NP_066986.1:p.Ser254Leu
ENST00000353796.7:c.761C>T (RBAK)	ENSP00000275423.4:p.Ser254Leu
ENST00000396904.2:c.238+6438C>T (RBAK-RBAKDN)	ENSP00000380112.2:n.238+6438C>T
ENST00000396912.1:c.761C>T (RBAK)	ENSP00000380120.1:p.Ser254Leu
ENST00000407184.5:c.299+462C>T (RBAK-RBAKDN)	ENSP00000385560.1:n.299+462C>T