Canonical Allele Identifier: CA17905715

Gene: RERE

Linked Data

• dbSNP Id: rs956096603
• gnomAD v2: 1-8759411-C-T
• gnomAD v3: 1-8699352-C-T
• gnomAD v4: 1-8699352-C-T
• COSMIC: COSN2485766
• MyVariant Identifiers: chr1:g.8759411C>T (hg19) ; chr1:g.8699352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8699352C>T , CM000663.2:g.8699352C>T	GRCh38
NC_000001.10:g.8759411C>T , CM000663.1:g.8759411C>T	GRCh37
NC_000001.9:g.8681998C>T	NCBI36
NG_047035.1:g.123340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704050.1:c.-145+25208G>A	ENSP00000515653.1:n.-145+25208G>A
ENST00000400908.7:c.-144-42911G>A MANE Select	ENSP00000383700.2:n.-144-42911G>A
ENST00000656437.1:c.-144-42911G>A	ENSP00000499322.1:n.-144-42911G>A
ENST00000659924.1:c.-144-42911G>A	ENSP00000499704.1:n.-144-42911G>A
ENST00000337907.7:c.-144-42911G>A	ENSP00000338629.3:n.-144-42911G>A
ENST00000400908.6:c.-144-42911G>A	ENSP00000383700.2:n.-144-42911G>A
ENST00000468247.1:c.-145+3703G>A	ENSP00000465271.1:n.-145+3703G>A
ENST00000480342.5:n.409-42911G>A
NM_001042681.1:c.-144-42911G>A	NP_001036146.1:n.-144-42911G>A
NM_012102.3:c.-144-42911G>A	NP_036234.3:n.-144-42911G>A
XM_005263464.1:c.-145+3703G>A	XP_005263521.1:n.-145+3703G>A
XM_006710653.1:c.-144-42911G>A	XP_006710716.1:n.-144-42911G>A
XM_011541510.1:c.-144-42911G>A	XP_011539812.1:n.-144-42911G>A
XM_011541511.1:c.-144-42911G>A	XP_011539813.1:n.-144-42911G>A
XM_005263464.2:c.-145+3703G>A	XP_005263521.1:n.-145+3703G>A
XM_011541510.2:c.-144-42911G>A	XP_011539812.1:n.-144-42911G>A
XM_011541511.2:c.-144-42911G>A	XP_011539813.1:n.-144-42911G>A
XM_017001358.1:c.-144-42911G>A	XP_016856847.1:n.-144-42911G>A
XM_017001359.1:c.-145+37531G>A	XP_016856848.1:n.-145+37531G>A
NM_001042681.2:c.-144-42911G>A MANE Select	NP_001036146.1:n.-144-42911G>A
NM_012102.4:c.-144-42911G>A	NP_036234.3:n.-144-42911G>A