Canonical Allele Identifier: CA338168073

Gene: RERE

Linked Data

• ClinVar Variation Id: 2270886
• ClinVar RCV Id: RCV002809806
• dbSNP Id: rs1641252170
• MyVariant Identifiers: chr1:g.8415522G>A (hg19) ; chr1:g.8355462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355462G>A , CM000663.2:g.8355462G>A	GRCh38
NC_000001.10:g.8415522G>A , CM000663.1:g.8415522G>A	GRCh37
NC_000001.9:g.8338109G>A	NCBI36
NG_047035.1:g.467230C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2962C>T	ENSP00000515651.1:p.His988Tyr
ENST00000400908.7:c.4624C>T MANE Select	ENSP00000383700.2:p.His1542Tyr
ENST00000337907.7:c.4624C>T	ENSP00000338629.3:p.His1542Tyr
ENST00000377464.5:c.3820C>T	ENSP00000366684.1:p.His1274Tyr
ENST00000400907.6:c.1678C>T	ENSP00000383699.2:p.His560Tyr
ENST00000400908.6:c.4624C>T	ENSP00000383700.2:p.His1542Tyr
ENST00000476556.5:c.2962C>T	ENSP00000422246.1:p.His988Tyr
NM_001042681.1:c.4624C>T	NP_001036146.1:p.His1542Tyr
NM_001042682.1:c.2962C>T	NP_001036147.1:p.His988Tyr
NM_012102.3:c.4624C>T	NP_036234.3:p.His1542Tyr
XM_005263464.1:c.4624C>T	XP_005263521.1:p.His1542Tyr
XM_005263466.1:c.3820C>T	XP_005263523.1:p.His1274Tyr
XM_006710653.1:c.4624C>T	XP_006710716.1:p.His1542Tyr
XM_011541510.1:c.4498C>T	XP_011539812.1:p.His1500Tyr
XM_005263464.2:c.4624C>T	XP_005263521.1:p.His1542Tyr
XM_011541510.2:c.4498C>T	XP_011539812.1:p.His1500Tyr
XM_017001358.1:c.4624C>T	XP_016856847.1:p.His1542Tyr
XM_017001359.1:c.4624C>T	XP_016856848.1:p.His1542Tyr
NM_001042681.2:c.4624C>T MANE Select	NP_001036146.1:p.His1542Tyr
NM_001042682.2:c.2962C>T	NP_001036147.1:p.His988Tyr
NM_012102.4:c.4624C>T	NP_036234.3:p.His1542Tyr