Canonical Allele Identifier: CA1344901
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs766064081
ExAC: 1:204128727 T / G
gnomAD v2: 1-204128727-T-G
gnomAD v4: 1-204159599-T-G
MyVariant Identifiers: chr1:g.204128727T>G (hg19) chr1:g.204159599T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159599T>G , CM000663.2:g.204159599T>G GRCh38
NC_000001.10:g.204128727T>G , CM000663.1:g.204128727T>G GRCh37
NC_000001.9:g.202395350T>G NCBI36
NG_012122.1:g.11739A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.493-4A>C MANE Select ENSP00000272190.8:n.493-4A>C
ENST00000638118.1:c.379-4A>C ENSP00000490307.1:n.379-4A>C
ENST00000272190.8:c.493-4A>C ENSP00000272190.8:n.493-4A>C
NM_000537.3:c.493-4A>C NP_000528.1:n.493-4A>C
NM_000537.4:c.493-4A>C MANE Select NP_000528.1:n.493-4A>C
Search 100 bp 5'
Search 100 bp 3'