Canonical Allele Identifier: CA17718797

Gene: RERE

Linked Data

• dbSNP Id: rs555080728
• gnomAD v3: 1-8387572-T-C
• gnomAD v4: 1-8387572-T-C
• MyVariant Identifiers: chr1:g.8447632T>C (hg19) ; chr1:g.8387572T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8387572T>C , CM000663.2:g.8387572T>C	GRCh38
NC_000001.10:g.8447632T>C , CM000663.1:g.8447632T>C	GRCh37
NC_000001.9:g.8370219T>C	NCBI36
NG_047035.1:g.435120A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000465125.2:c.-378-21598A>G	ENSP00000515651.1:n.-378-21598A>G
ENST00000400908.7:c.1285-21598A>G MANE Select	ENSP00000383700.2:n.1285-21598A>G
ENST00000656437.1:c.1285-21598A>G	ENSP00000499322.1:n.1285-21598A>G
ENST00000337907.7:c.1285-21598A>G	ENSP00000338629.3:n.1285-21598A>G
ENST00000377464.5:c.481-21598A>G	ENSP00000366684.1:n.481-21598A>G
ENST00000400907.6:c.1285-21598A>G	ENSP00000383699.2:n.1285-21598A>G
ENST00000400908.6:c.1285-21598A>G	ENSP00000383700.2:n.1285-21598A>G
ENST00000460659.5:n.335-21598A>G
ENST00000465125.1:n.302-21598A>G
ENST00000476556.5:c.-378-21598A>G	ENSP00000422246.1:n.-378-21598A>G
ENST00000488215.5:c.-378-21598A>G	ENSP00000464847.1:n.-378-21598A>G
ENST00000492766.5:n.269-21598A>G
NM_001042681.1:c.1285-21598A>G	NP_001036146.1:n.1285-21598A>G
NM_001042682.1:c.-378-21598A>G	NP_001036147.1:n.-378-21598A>G
NM_012102.3:c.1285-21598A>G	NP_036234.3:n.1285-21598A>G
XM_005263464.1:c.1285-21598A>G	XP_005263521.1:n.1285-21598A>G
XM_005263466.1:c.481-21598A>G	XP_005263523.1:n.481-21598A>G
XM_006710653.1:c.1285-21598A>G	XP_006710716.1:n.1285-21598A>G
XM_011541510.1:c.1159-21598A>G	XP_011539812.1:n.1159-21598A>G
XM_011541511.1:c.1285-21598A>G	XP_011539813.1:n.1285-21598A>G
XM_005263464.2:c.1285-21598A>G	XP_005263521.1:n.1285-21598A>G
XM_011541510.2:c.1159-21598A>G	XP_011539812.1:n.1159-21598A>G
XM_011541511.2:c.1285-21598A>G	XP_011539813.1:n.1285-21598A>G
XM_017001358.1:c.1285-21598A>G	XP_016856847.1:n.1285-21598A>G
XM_017001359.1:c.1285-21598A>G	XP_016856848.1:n.1285-21598A>G
NM_001042681.2:c.1285-21598A>G MANE Select	NP_001036146.1:n.1285-21598A>G
NM_001042682.2:c.-378-21598A>G	NP_001036147.1:n.-378-21598A>G
NM_012102.4:c.1285-21598A>G	NP_036234.3:n.1285-21598A>G