Canonical Allele Identifier: CA344338635
Gene: REN HGNC NCBI

Linked Data

gnomAD v4: 1-204159567-A-G
COSMIC: COSM1668390
MyVariant Identifiers: chr1:g.204128695A>G (hg19) chr1:g.204159567A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159567A>G , CM000663.2:g.204159567A>G GRCh38
NC_000001.10:g.204128695A>G , CM000663.1:g.204128695A>G GRCh37
NC_000001.9:g.202395318A>G NCBI36
NG_012122.1:g.11771T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.521T>C MANE Select ENSP00000272190.8:p.Phe174Ser
ENST00000638118.1:c.407T>C ENSP00000490307.1:p.Phe136Ser
ENST00000272190.8:c.521T>C ENSP00000272190.8:p.Phe174Ser
NM_000537.3:c.521T>C NP_000528.1:p.Phe174Ser
NM_000537.4:c.521T>C MANE Select NP_000528.1:p.Phe174Ser
Search 100 bp 5'
Search 100 bp 3'