Canonical Allele Identifier: CA2090500285

Gene: RCBTB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49549530G= , CM000675.2:g.49549530G=	GRCh38
NC_000013.10:g.50123666G= , CM000675.1:g.50123666G=	GRCh37
NC_000013.9:g.49021667G=	NCBI36
NG_046892.1:g.41077C=

Transcript Alleles

HGVS	Amino-acid Change
NM_018191.4:c.973C= MANE Select	NP_060661.3:p.His325=
ENST00000378302.7:c.973C= MANE Select	ENSP00000367552.2:p.His325=
NM_001352500.1:c.973C=	NP_001339429.1:p.His325=
NM_001352500.2:c.973C=	NP_001339429.1:p.His325=
NM_001352501.1:c.973C=	NP_001339430.1:p.His325=
NM_001352501.2:c.973C=	NP_001339430.1:p.His325=
NM_001352502.1:c.973C=	NP_001339431.1:p.His325=
NM_001352502.2:c.973C=	NP_001339431.1:p.His325=
NM_001352503.1:c.973C=	NP_001339432.1:p.His325=
NM_001352503.2:c.973C=	NP_001339432.1:p.His325=
NM_001352504.1:c.973C=	NP_001339433.1:p.His325=
NM_001352504.2:c.973C=	NP_001339433.1:p.His325=
NM_001352505.1:c.973C=	NP_001339434.1:p.His325=
NM_001352505.2:c.973C=	NP_001339434.1:p.His325=
NM_001352506.1:c.394C=	NP_001339435.1:p.His132=
NM_001352506.2:c.394C=	NP_001339435.1:p.His132=
NM_018191.3:c.973C=	NP_060661.3:p.His325=
NR_148015.1:n.1392C=
NR_148015.2:n.1367C=
NR_148016.1:n.1348C=
NR_148016.2:n.1323C=
ENST00000258646.3:c.973C=	ENSP00000258646.3:p.His325=
ENST00000378302.6:c.973C=	ENSP00000367552.2:p.His325=
XM_005266441.2:c.973C=	XP_005266498.1:p.His325=
XM_011535133.1:c.973C=	XP_011533435.1:p.His325=
XM_011535134.1:c.973C=	XP_011533436.1:p.His325=
XM_011535135.1:c.586C=	XP_011533437.1:p.His196=
XM_011535135.2:c.586C=	XP_011533437.1:p.His196=
XR_001749596.1:n.1238C=
XR_941613.1:n.1238C=