Canonical Allele Identifier: CA344338831
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1276829651
gnomAD v4: 1-204159595-C-T
MyVariant Identifiers: chr1:g.204128723C>T (hg19) chr1:g.204159595C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159595C>T , CM000663.2:g.204159595C>T GRCh38
NC_000001.10:g.204128723C>T , CM000663.1:g.204128723C>T GRCh37
NC_000001.9:g.202395346C>T NCBI36
NG_012122.1:g.11743G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.493G>A MANE Select ENSP00000272190.8:p.Val165Met
ENST00000638118.1:c.379G>A ENSP00000490307.1:p.Val127Met
ENST00000272190.8:c.493G>A ENSP00000272190.8:p.Val165Met
NM_000537.3:c.493G>A NP_000528.1:p.Val165Met
NM_000537.4:c.493G>A MANE Select NP_000528.1:p.Val165Met
Search 100 bp 5'
Search 100 bp 3'