Canonical Allele Identifier: CA1345004

Gene: REN

Linked Data

• dbSNP Id: rs374058257
• ExAC: 1:204131091 A / T
• gnomAD v2: 1-204131091-A-T
• gnomAD v3: 1-204161963-A-T
• gnomAD v4: 1-204161963-A-T
• MyVariant Identifiers: chr1:g.204131091A>T (hg19) ; chr1:g.204161963A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204161963A>T , CM000663.2:g.204161963A>T	GRCh38
NC_000001.10:g.204131091A>T , CM000663.1:g.204131091A>T	GRCh37
NC_000001.9:g.202397714A>T	NCBI36
NG_012122.1:g.9375T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.249+50T>A MANE Select	ENSP00000272190.8:n.249+50T>A
ENST00000638118.1:c.135+50T>A	ENSP00000490307.1:n.135+50T>A
ENST00000272190.8:c.249+50T>A	ENSP00000272190.8:n.249+50T>A
NM_000537.3:c.249+50T>A	NP_000528.1:n.249+50T>A
NM_000537.4:c.249+50T>A MANE Select	NP_000528.1:n.249+50T>A