Canonical Allele Identifier: CA338169007

Gene: RERE

Linked Data

• dbSNP Id: rs1570021159
• gnomAD v3: 1-8358336-C-T
• gnomAD v4: 1-8358336-C-T
• MyVariant Identifiers: chr1:g.8418396C>T (hg19) ; chr1:g.8358336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8358336C>T , CM000663.2:g.8358336C>T	GRCh38
NC_000001.10:g.8418396C>T , CM000663.1:g.8418396C>T	GRCh37
NC_000001.9:g.8340983C>T	NCBI36
NG_047035.1:g.464356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2537G>A	ENSP00000515651.1:p.Arg846His
ENST00000400908.7:c.4199G>A MANE Select	ENSP00000383700.2:p.Arg1400His
ENST00000337907.7:c.4199G>A	ENSP00000338629.3:p.Arg1400His
ENST00000377464.5:c.3395G>A	ENSP00000366684.1:p.Arg1132His
ENST00000400907.6:c.1541-2737G>A	ENSP00000383699.2:n.1541-2737G>A
ENST00000400908.6:c.4199G>A	ENSP00000383700.2:p.Arg1400His
ENST00000476556.5:c.2537G>A	ENSP00000422246.1:p.Arg846His
ENST00000505225.1:c.308-2090G>A	ENSP00000423451.1:n.308-2090G>A
NM_001042681.1:c.4199G>A	NP_001036146.1:p.Arg1400His
NM_001042682.1:c.2537G>A	NP_001036147.1:p.Arg846His
NM_012102.3:c.4199G>A	NP_036234.3:p.Arg1400His
XM_005263464.1:c.4199G>A	XP_005263521.1:p.Arg1400His
XM_005263466.1:c.3395G>A	XP_005263523.1:p.Arg1132His
XM_006710653.1:c.4199G>A	XP_006710716.1:p.Arg1400His
XM_011541510.1:c.4073G>A	XP_011539812.1:p.Arg1358His
XM_005263464.2:c.4199G>A	XP_005263521.1:p.Arg1400His
XM_011541510.2:c.4073G>A	XP_011539812.1:p.Arg1358His
XM_017001358.1:c.4199G>A	XP_016856847.1:p.Arg1400His
XM_017001359.1:c.4199G>A	XP_016856848.1:p.Arg1400His
NM_001042681.2:c.4199G>A MANE Select	NP_001036146.1:p.Arg1400His
NM_001042682.2:c.2537G>A	NP_001036147.1:p.Arg846His
NM_012102.4:c.4199G>A	NP_036234.3:p.Arg1400His