Canonical Allele Identifier: CA2580583328

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8362616T>G , CM000663.2:g.8362616T>G	GRCh38
NC_000001.10:g.8422676T>G , CM000663.1:g.8422676T>G	GRCh37
NC_000001.9:g.8345263T>G	NCBI36
NG_047035.1:g.460076A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000465125.2:c.240+67A>C	ENSP00000515651.1:n.240+67A>C
ENST00000400908.7:c.1902+67A>C MANE Select	ENSP00000383700.2:n.1902+67A>C
ENST00000656437.1:c.1902+67A>C	ENSP00000499322.1:n.1902+67A>C
ENST00000337907.7:c.1902+67A>C	ENSP00000338629.3:n.1902+67A>C
ENST00000377464.5:c.1098+67A>C	ENSP00000366684.1:n.1098+67A>C
ENST00000400907.6:c.1540+2130A>C	ENSP00000383699.2:n.1540+2130A>C
ENST00000400908.6:c.1902+67A>C	ENSP00000383700.2:n.1902+67A>C
ENST00000476556.5:c.240+67A>C	ENSP00000422246.1:n.240+67A>C
ENST00000505225.1:c.162+67A>C	ENSP00000423451.1:n.162+67A>C
NM_001042681.1:c.1902+67A>C	NP_001036146.1:n.1902+67A>C
NM_001042682.1:c.240+67A>C	NP_001036147.1:n.240+67A>C
NM_012102.3:c.1902+67A>C	NP_036234.3:n.1902+67A>C
XM_005263464.1:c.1902+67A>C	XP_005263521.1:n.1902+67A>C
XM_005263466.1:c.1098+67A>C	XP_005263523.1:n.1098+67A>C
XM_006710653.1:c.1902+67A>C	XP_006710716.1:n.1902+67A>C
XM_011541510.1:c.1776+67A>C	XP_011539812.1:n.1776+67A>C
XM_011541511.1:c.1902+67A>C	XP_011539813.1:n.1902+67A>C
XM_005263464.2:c.1902+67A>C	XP_005263521.1:n.1902+67A>C
XM_011541510.2:c.1776+67A>C	XP_011539812.1:n.1776+67A>C
XM_011541511.2:c.1902+67A>C	XP_011539813.1:n.1902+67A>C
XM_017001358.1:c.1902+67A>C	XP_016856847.1:n.1902+67A>C
XM_017001359.1:c.1902+67A>C	XP_016856848.1:n.1902+67A>C
NM_001042681.2:c.1902+67A>C MANE Select	NP_001036146.1:n.1902+67A>C
NM_001042682.2:c.240+67A>C	NP_001036147.1:n.240+67A>C
NM_012102.4:c.1902+67A>C	NP_036234.3:n.1902+67A>C