Canonical Allele Identifier: CA344338251
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1332995811
gnomAD v2: 1-204128639-C-A
gnomAD v4: 1-204159511-C-A
MyVariant Identifiers: chr1:g.204128639C>A (hg19) chr1:g.204159511C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159511C>A , CM000663.2:g.204159511C>A GRCh38
NC_000001.10:g.204128639C>A , CM000663.1:g.204128639C>A GRCh37
NC_000001.9:g.202395262C>A NCBI36
NG_012122.1:g.11827G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.577G>T MANE Select ENSP00000272190.8:p.Val193Phe
ENST00000638118.1:c.463G>T ENSP00000490307.1:p.Val155Phe
ENST00000272190.8:c.577G>T ENSP00000272190.8:p.Val193Phe
NM_000537.3:c.577G>T NP_000528.1:p.Val193Phe
NM_000537.4:c.577G>T MANE Select NP_000528.1:p.Val193Phe
Search 100 bp 5'
Search 100 bp 3'