Canonical Allele Identifier: CA520990924

Gene: RERE

Linked Data

• dbSNP Id: rs1355309719
• gnomAD v2: 1-8481982-T-A
• gnomAD v3: 1-8421922-T-A
• gnomAD v4: 1-8421922-T-A
• MyVariant Identifiers: chr1:g.8481982T>A (hg19) ; chr1:g.8421922T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8421922T>A , CM000663.2:g.8421922T>A	GRCh38
NC_000001.10:g.8481982T>A , CM000663.1:g.8481982T>A	GRCh37
NC_000001.9:g.8404569T>A	NCBI36
NG_047035.1:g.400770A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465125.2:c.-379+805A>T	ENSP00000515651.1:n.-379+805A>T
ENST00000400908.7:c.1284+805A>T MANE Select	ENSP00000383700.2:n.1284+805A>T
ENST00000656437.1:c.1284+805A>T	ENSP00000499322.1:n.1284+805A>T
ENST00000337907.7:c.1284+805A>T	ENSP00000338629.3:n.1284+805A>T
ENST00000377464.5:c.480+805A>T	ENSP00000366684.1:n.480+805A>T
ENST00000400907.6:c.1284+805A>T	ENSP00000383699.2:n.1284+805A>T
ENST00000400908.6:c.1284+805A>T	ENSP00000383700.2:n.1284+805A>T
ENST00000460659.5:n.334+805A>T
ENST00000465125.1:n.301+805A>T
ENST00000476556.5:c.-379+805A>T	ENSP00000422246.1:n.-379+805A>T
ENST00000488215.5:c.-379+805A>T	ENSP00000464847.1:n.-379+805A>T
ENST00000492766.5:n.268+805A>T
NM_001042681.1:c.1284+805A>T	NP_001036146.1:n.1284+805A>T
NM_001042682.1:c.-379+805A>T	NP_001036147.1:n.-379+805A>T
NM_012102.3:c.1284+805A>T	NP_036234.3:n.1284+805A>T
XM_005263464.1:c.1284+805A>T	XP_005263521.1:n.1284+805A>T
XM_005263466.1:c.480+805A>T	XP_005263523.1:n.480+805A>T
XM_006710653.1:c.1284+805A>T	XP_006710716.1:n.1284+805A>T
XM_011541510.1:c.1158+805A>T	XP_011539812.1:n.1158+805A>T
XM_011541511.1:c.1284+805A>T	XP_011539813.1:n.1284+805A>T
XM_005263464.2:c.1284+805A>T	XP_005263521.1:n.1284+805A>T
XM_011541510.2:c.1158+805A>T	XP_011539812.1:n.1158+805A>T
XM_011541511.2:c.1284+805A>T	XP_011539813.1:n.1284+805A>T
XM_017001358.1:c.1284+805A>T	XP_016856847.1:n.1284+805A>T
XM_017001359.1:c.1284+805A>T	XP_016856848.1:n.1284+805A>T
NM_001042681.2:c.1284+805A>T MANE Select	NP_001036146.1:n.1284+805A>T
NM_001042682.2:c.-379+805A>T	NP_001036147.1:n.-379+805A>T
NM_012102.4:c.1284+805A>T	NP_036234.3:n.1284+805A>T