Canonical Allele Identifier: CA1152318851

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355473T= , CM000663.2:g.8355473T=	GRCh38
NC_000001.10:g.8415533T= , CM000663.1:g.8415533T=	GRCh37
NC_000001.9:g.8338120T=	NCBI36
NG_047035.1:g.467219A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2951A=	ENSP00000515651.1:p.His984=
ENST00000400908.7:c.4613A= MANE Select	ENSP00000383700.2:p.His1538=
ENST00000337907.7:c.4613A=	ENSP00000338629.3:p.His1538=
ENST00000377464.5:c.3809A=	ENSP00000366684.1:p.His1270=
ENST00000400907.6:c.1667A=	ENSP00000383699.2:p.His556=
ENST00000400908.6:c.4613A=	ENSP00000383700.2:p.His1538=
ENST00000476556.5:c.2951A=	ENSP00000422246.1:p.His984=
NM_001042681.1:c.4613A=	NP_001036146.1:p.His1538=
NM_001042682.1:c.2951A=	NP_001036147.1:p.His984=
NM_012102.3:c.4613A=	NP_036234.3:p.His1538=
XM_005263464.1:c.4613A=	XP_005263521.1:p.His1538=
XM_005263466.1:c.3809A=	XP_005263523.1:p.His1270=
XM_006710653.1:c.4613A=	XP_006710716.1:p.His1538=
XM_011541510.1:c.4487A=	XP_011539812.1:p.His1496=
XM_005263464.2:c.4613A=	XP_005263521.1:p.His1538=
XM_011541510.2:c.4487A=	XP_011539812.1:p.His1496=
XM_017001358.1:c.4613A=	XP_016856847.1:p.His1538=
XM_017001359.1:c.4613A=	XP_016856848.1:p.His1538=
NM_001042681.2:c.4613A= MANE Select	NP_001036146.1:p.His1538=
NM_001042682.2:c.2951A=	NP_001036147.1:p.His984=
NM_012102.4:c.4613A=	NP_036234.3:p.His1538=