Canonical Allele Identifier: CA1344893
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 1912291
ClinVar RCV Id: RCV002600767
dbSNP Id: rs768994501
ExAC: 1:204128673 G / A
gnomAD v2: 1-204128673-G-A
gnomAD v4: 1-204159545-G-A
MyVariant Identifiers: chr1:g.204128673G>A (hg19) chr1:g.204159545G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159545G>A , CM000663.2:g.204159545G>A GRCh38
NC_000001.10:g.204128673G>A , CM000663.1:g.204128673G>A GRCh37
NC_000001.9:g.202395296G>A NCBI36
NG_012122.1:g.11793C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.543C>T MANE Select ENSP00000272190.8:p.Pro181=
ENST00000638118.1:c.429C>T ENSP00000490307.1:p.Pro143=
ENST00000272190.8:c.543C>T ENSP00000272190.8:p.Pro181=
NM_000537.3:c.543C>T NP_000528.1:p.Pro181=
NM_000537.4:c.543C>T MANE Select NP_000528.1:p.Pro181=
Search 100 bp 5'
Search 100 bp 3'