Canonical Allele Identifier: CA344338678
Gene: REN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159572C>A , CM000663.2:g.204159572C>A GRCh38
NC_000001.10:g.204128700C>A , CM000663.1:g.204128700C>A GRCh37
NC_000001.9:g.202395323C>A NCBI36
NG_012122.1:g.11766G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.516G>T MANE Select ENSP00000272190.8:p.Gln172His
ENST00000638118.1:c.402G>T ENSP00000490307.1:p.Gln134His
ENST00000272190.8:c.516G>T ENSP00000272190.8:p.Gln172His
NM_000537.3:c.516G>T NP_000528.1:p.Gln172His
NM_000537.4:c.516G>T MANE Select NP_000528.1:p.Gln172His