Canonical Allele Identifier: CA415846710

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8362683C>T , CM000663.2:g.8362683C>T	GRCh38
NC_000001.10:g.8422743C>T , CM000663.1:g.8422743C>T	GRCh37
NC_000001.9:g.8345330C>T	NCBI36
NG_047035.1:g.460009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.240G>A	ENSP00000515651.1:p.Lys80=
ENST00000400908.7:c.1902G>A MANE Select	ENSP00000383700.2:p.Lys634=
ENST00000656437.1:c.1902G>A	ENSP00000499322.1:p.Lys634=
ENST00000337907.7:c.1902G>A	ENSP00000338629.3:p.Lys634=
ENST00000377464.5:c.1098G>A	ENSP00000366684.1:p.Lys366=
ENST00000400907.6:c.1540+2063G>A	ENSP00000383699.2:n.1540+2063G>A
ENST00000400908.6:c.1902G>A	ENSP00000383700.2:p.Lys634=
ENST00000476556.5:c.240G>A	ENSP00000422246.1:p.Lys80=
ENST00000505225.1:c.162G>A	ENSP00000423451.1:p.Lys54=
NM_001042681.1:c.1902G>A	NP_001036146.1:p.Lys634=
NM_001042682.1:c.240G>A	NP_001036147.1:p.Lys80=
NM_012102.3:c.1902G>A	NP_036234.3:p.Lys634=
XM_005263464.1:c.1902G>A	XP_005263521.1:p.Lys634=
XM_005263466.1:c.1098G>A	XP_005263523.1:p.Lys366=
XM_006710653.1:c.1902G>A	XP_006710716.1:p.Lys634=
XM_011541510.1:c.1776G>A	XP_011539812.1:p.Lys592=
XM_011541511.1:c.1902G>A	XP_011539813.1:p.Lys634=
XM_005263464.2:c.1902G>A	XP_005263521.1:p.Lys634=
XM_011541510.2:c.1776G>A	XP_011539812.1:p.Lys592=
XM_011541511.2:c.1902G>A	XP_011539813.1:p.Lys634=
XM_017001358.1:c.1902G>A	XP_016856847.1:p.Lys634=
XM_017001359.1:c.1902G>A	XP_016856848.1:p.Lys634=
NM_001042681.2:c.1902G>A MANE Select	NP_001036146.1:p.Lys634=
NM_001042682.2:c.240G>A	NP_001036147.1:p.Lys80=
NM_012102.4:c.1902G>A	NP_036234.3:p.Lys634=