Canonical Allele Identifier: CA1344864
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs755890508
ExAC: 1:204128529 G / A
gnomAD v2: 1-204128529-G-A
gnomAD v3: 1-204159401-G-A
gnomAD v4: 1-204159401-G-A
COSMIC: COSM6060970
MyVariant Identifiers: chr1:g.204128529G>A (hg19) chr1:g.204159401G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159401G>A , CM000663.2:g.204159401G>A GRCh38
NC_000001.10:g.204128529G>A , CM000663.1:g.204128529G>A GRCh37
NC_000001.9:g.202395152G>A NCBI36
NG_012122.1:g.11937C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.687C>T MANE Select ENSP00000272190.8:p.Asn229=
ENST00000638118.1:c.573C>T ENSP00000490307.1:p.Asn191=
ENST00000272190.8:c.687C>T ENSP00000272190.8:p.Asn229=
NM_000537.3:c.687C>T NP_000528.1:p.Asn229=
NM_000537.4:c.687C>T MANE Select NP_000528.1:p.Asn229=
Search 100 bp 5'
Search 100 bp 3'