Canonical Allele Identifier: CA1344906
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs757306159
ExAC: 1:204128750 C / A
gnomAD v2: 1-204128750-C-A
gnomAD v3: 1-204159622-C-A
gnomAD v4: 1-204159622-C-A
MyVariant Identifiers: chr1:g.204128750C>A (hg19) chr1:g.204159622C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159622C>A , CM000663.2:g.204159622C>A GRCh38
NC_000001.10:g.204128750C>A , CM000663.1:g.204128750C>A GRCh37
NC_000001.9:g.202395373C>A NCBI36
NG_012122.1:g.11716G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.493-27G>T MANE Select ENSP00000272190.8:n.493-27G>T
ENST00000638118.1:c.379-27G>T ENSP00000490307.1:n.379-27G>T
ENST00000272190.8:c.493-27G>T ENSP00000272190.8:n.493-27G>T
NM_000537.3:c.493-27G>T NP_000528.1:n.493-27G>T
NM_000537.4:c.493-27G>T MANE Select NP_000528.1:n.493-27G>T
Search 100 bp 5'
Search 100 bp 3'