Canonical Allele Identifier: CA344337846
Gene: REN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159441T>A , CM000663.2:g.204159441T>A GRCh38
NC_000001.10:g.204128569T>A , CM000663.1:g.204128569T>A GRCh37
NC_000001.9:g.202395192T>A NCBI36
NG_012122.1:g.11897A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.647A>T MANE Select ENSP00000272190.8:p.Gln216Leu
ENST00000638118.1:c.533A>T ENSP00000490307.1:p.Gln178Leu
ENST00000272190.8:c.647A>T ENSP00000272190.8:p.Gln216Leu
NM_000537.3:c.647A>T NP_000528.1:p.Gln216Leu
NM_000537.4:c.647A>T MANE Select NP_000528.1:p.Gln216Leu