Canonical Allele Identifier: CA344338589
Gene: REN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159559C>G , CM000663.2:g.204159559C>G GRCh38
NC_000001.10:g.204128687C>G , CM000663.1:g.204128687C>G GRCh37
NC_000001.9:g.202395310C>G NCBI36
NG_012122.1:g.11779G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.529G>C MANE Select ENSP00000272190.8:p.Val177Leu
ENST00000638118.1:c.415G>C ENSP00000490307.1:p.Val139Leu
ENST00000272190.8:c.529G>C ENSP00000272190.8:p.Val177Leu
NM_000537.3:c.529G>C NP_000528.1:p.Val177Leu
NM_000537.4:c.529G>C MANE Select NP_000528.1:p.Val177Leu