Canonical Allele Identifier: CA1344891
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs775650368
ExAC: 1:204128658 C / T
gnomAD v2: 1-204128658-C-T
gnomAD v3: 1-204159530-C-T
gnomAD v4: 1-204159530-C-T
MyVariant Identifiers: chr1:g.204128658C>T (hg19) chr1:g.204159530C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159530C>T , CM000663.2:g.204159530C>T GRCh38
NC_000001.10:g.204128658C>T , CM000663.1:g.204128658C>T GRCh37
NC_000001.9:g.202395281C>T NCBI36
NG_012122.1:g.11808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.558G>A MANE Select ENSP00000272190.8:p.Met186Ile
ENST00000638118.1:c.444G>A ENSP00000490307.1:p.Met148Ile
ENST00000272190.8:c.558G>A ENSP00000272190.8:p.Met186Ile
NM_000537.3:c.558G>A NP_000528.1:p.Met186Ile
NM_000537.4:c.558G>A MANE Select NP_000528.1:p.Met186Ile
Search 100 bp 5'
Search 100 bp 3'