Canonical Allele Identifier: CA338168003

Gene: RERE

Linked Data

• dbSNP Id: rs1641250625
• gnomAD v3: 1-8355429-C-T
• gnomAD v4: 1-8355429-C-T
• MyVariant Identifiers: chr1:g.8415489C>T (hg19) ; chr1:g.8355429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355429C>T , CM000663.2:g.8355429C>T	GRCh38
NC_000001.10:g.8415489C>T , CM000663.1:g.8415489C>T	GRCh37
NC_000001.9:g.8338076C>T	NCBI36
NG_047035.1:g.467263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2995G>A	ENSP00000515651.1:p.Asp999Asn
ENST00000400908.7:c.4657G>A MANE Select	ENSP00000383700.2:p.Asp1553Asn
ENST00000337907.7:c.4657G>A	ENSP00000338629.3:p.Asp1553Asn
ENST00000377464.5:c.3853G>A	ENSP00000366684.1:p.Asp1285Asn
ENST00000400907.6:c.1711G>A	ENSP00000383699.2:p.Asp571Asn
ENST00000400908.6:c.4657G>A	ENSP00000383700.2:p.Asp1553Asn
ENST00000476556.5:c.2995G>A	ENSP00000422246.1:p.Asp999Asn
NM_001042681.1:c.4657G>A	NP_001036146.1:p.Asp1553Asn
NM_001042682.1:c.2995G>A	NP_001036147.1:p.Asp999Asn
NM_012102.3:c.4657G>A	NP_036234.3:p.Asp1553Asn
XM_005263464.1:c.4657G>A	XP_005263521.1:p.Asp1553Asn
XM_005263466.1:c.3853G>A	XP_005263523.1:p.Asp1285Asn
XM_006710653.1:c.4657G>A	XP_006710716.1:p.Asp1553Asn
XM_011541510.1:c.4531G>A	XP_011539812.1:p.Asp1511Asn
XM_005263464.2:c.4657G>A	XP_005263521.1:p.Asp1553Asn
XM_011541510.2:c.4531G>A	XP_011539812.1:p.Asp1511Asn
XM_017001358.1:c.4657G>A	XP_016856847.1:p.Asp1553Asn
XM_017001359.1:c.4657G>A	XP_016856848.1:p.Asp1553Asn
NM_001042681.2:c.4657G>A MANE Select	NP_001036146.1:p.Asp1553Asn
NM_001042682.2:c.2995G>A	NP_001036147.1:p.Asp999Asn
NM_012102.4:c.4657G>A	NP_036234.3:p.Asp1553Asn