Canonical Allele Identifier: CA2742386121

Gene: RERE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8699503T>C , CM000663.2:g.8699503T>C	GRCh38
NC_000001.10:g.8759562T>C , CM000663.1:g.8759562T>C	GRCh37
NC_000001.9:g.8682149T>C	NCBI36
NG_047035.1:g.123189A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000704050.1:c.-145+25057A>G	ENSP00000515653.1:n.-145+25057A>G
ENST00000400908.7:c.-144-43062A>G MANE Select	ENSP00000383700.2:n.-144-43062A>G
ENST00000656437.1:c.-144-43062A>G	ENSP00000499322.1:n.-144-43062A>G
ENST00000659924.1:c.-144-43062A>G	ENSP00000499704.1:n.-144-43062A>G
ENST00000337907.7:c.-144-43062A>G	ENSP00000338629.3:n.-144-43062A>G
ENST00000400908.6:c.-144-43062A>G	ENSP00000383700.2:n.-144-43062A>G
ENST00000468247.1:c.-145+3552A>G	ENSP00000465271.1:n.-145+3552A>G
ENST00000480342.5:n.409-43062A>G
NM_001042681.1:c.-144-43062A>G	NP_001036146.1:n.-144-43062A>G
NM_012102.3:c.-144-43062A>G	NP_036234.3:n.-144-43062A>G
XM_005263464.1:c.-145+3552A>G	XP_005263521.1:n.-145+3552A>G
XM_006710653.1:c.-144-43062A>G	XP_006710716.1:n.-144-43062A>G
XM_011541510.1:c.-144-43062A>G	XP_011539812.1:n.-144-43062A>G
XM_011541511.1:c.-144-43062A>G	XP_011539813.1:n.-144-43062A>G
XM_005263464.2:c.-145+3552A>G	XP_005263521.1:n.-145+3552A>G
XM_011541510.2:c.-144-43062A>G	XP_011539812.1:n.-144-43062A>G
XM_011541511.2:c.-144-43062A>G	XP_011539813.1:n.-144-43062A>G
XM_017001358.1:c.-144-43062A>G	XP_016856847.1:n.-144-43062A>G
XM_017001359.1:c.-145+37380A>G	XP_016856848.1:n.-145+37380A>G
NM_001042681.2:c.-144-43062A>G MANE Select	NP_001036146.1:n.-144-43062A>G
NM_012102.4:c.-144-43062A>G	NP_036234.3:n.-144-43062A>G