Canonical Allele Identifier: CA344332540
Gene: REN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204155175T>G , CM000663.2:g.204155175T>G GRCh38
NC_000001.10:g.204124303T>G , CM000663.1:g.204124303T>G GRCh37
NC_000001.9:g.202390926T>G NCBI36
NG_012122.1:g.16163A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.1062A>C MANE Select ENSP00000272190.8:p.Glu354Asp
ENST00000638118.1:c.948A>C ENSP00000490307.1:p.Glu316Asp
ENST00000272190.8:c.1062A>C ENSP00000272190.8:p.Glu354Asp
NM_000537.3:c.1062A>C NP_000528.1:p.Glu354Asp
NM_000537.4:c.1062A>C MANE Select NP_000528.1:p.Glu354Asp