Canonical Allele Identifier: CA344337817
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs776861775
gnomAD v2: 1-204128564-C-T
gnomAD v4: 1-204159436-C-T
MyVariant Identifiers: chr1:g.204128564C>T (hg19) chr1:g.204159436C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159436C>T , CM000663.2:g.204159436C>T GRCh38
NC_000001.10:g.204128564C>T , CM000663.1:g.204128564C>T GRCh37
NC_000001.9:g.202395187C>T NCBI36
NG_012122.1:g.11902G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.652G>A MANE Select ENSP00000272190.8:p.Val218Met
ENST00000638118.1:c.538G>A ENSP00000490307.1:p.Val180Met
ENST00000272190.8:c.652G>A ENSP00000272190.8:p.Val218Met
NM_000537.3:c.652G>A NP_000528.1:p.Val218Met
NM_000537.4:c.652G>A MANE Select NP_000528.1:p.Val218Met
Search 100 bp 5'
Search 100 bp 3'