Canonical Allele Identifier: CA1344889
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs777368574
ExAC: 1:204128652 G / T
gnomAD v2: 1-204128652-G-T
gnomAD v4: 1-204159524-G-T
MyVariant Identifiers: chr1:g.204128652G>T (hg19) chr1:g.204159524G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159524G>T , CM000663.2:g.204159524G>T GRCh38
NC_000001.10:g.204128652G>T , CM000663.1:g.204128652G>T GRCh37
NC_000001.9:g.202395275G>T NCBI36
NG_012122.1:g.11814C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.564C>A MANE Select ENSP00000272190.8:p.Ala188=
ENST00000638118.1:c.450C>A ENSP00000490307.1:p.Ala150=
ENST00000272190.8:c.564C>A ENSP00000272190.8:p.Ala188=
NM_000537.3:c.564C>A NP_000528.1:p.Ala188=
NM_000537.4:c.564C>A MANE Select NP_000528.1:p.Ala188=
Search 100 bp 5'
Search 100 bp 3'