Canonical Allele Identifier: CA1152321029

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359774T= , CM000663.2:g.8359774T=	GRCh38
NC_000001.10:g.8419834T= , CM000663.1:g.8419834T=	GRCh37
NC_000001.9:g.8342421T=	NCBI36
NG_047035.1:g.462918A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1946A=	ENSP00000515651.1:p.Glu649=
ENST00000400908.7:c.3608A= MANE Select	ENSP00000383700.2:p.Glu1203=
ENST00000337907.7:c.3608A=	ENSP00000338629.3:p.Glu1203=
ENST00000377464.5:c.2804A=	ENSP00000366684.1:p.Glu935=
ENST00000400907.6:c.1541-4175A=	ENSP00000383699.2:n.1541-4175A=
ENST00000400908.6:c.3608A=	ENSP00000383700.2:p.Glu1203=
ENST00000476556.5:c.1946A=	ENSP00000422246.1:p.Glu649=
ENST00000505225.1:c.307+1686A=	ENSP00000423451.1:n.307+1686A=
NM_001042681.1:c.3608A=	NP_001036146.1:p.Glu1203=
NM_001042682.1:c.1946A=	NP_001036147.1:p.Glu649=
NM_012102.3:c.3608A=	NP_036234.3:p.Glu1203=
XM_005263464.1:c.3608A=	XP_005263521.1:p.Glu1203=
XM_005263466.1:c.2804A=	XP_005263523.1:p.Glu935=
XM_006710653.1:c.3608A=	XP_006710716.1:p.Glu1203=
XM_011541510.1:c.3482A=	XP_011539812.1:p.Glu1161=
XM_011541511.1:c.3395+338A=	XP_011539813.1:n.3395+338A=
XM_005263464.2:c.3608A=	XP_005263521.1:p.Glu1203=
XM_011541510.2:c.3482A=	XP_011539812.1:p.Glu1161=
XM_011541511.2:c.3395+338A=	XP_011539813.1:n.3395+338A=
XM_017001358.1:c.3608A=	XP_016856847.1:p.Glu1203=
XM_017001359.1:c.3608A=	XP_016856848.1:p.Glu1203=
NM_001042681.2:c.3608A= MANE Select	NP_001036146.1:p.Glu1203=
NM_001042682.2:c.1946A=	NP_001036147.1:p.Glu649=
NM_012102.4:c.3608A=	NP_036234.3:p.Glu1203=