Canonical Allele Identifier: CA344338457
Gene: REN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.204128665G>T (hg19) chr1:g.204159537G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159537G>T , CM000663.2:g.204159537G>T GRCh38
NC_000001.10:g.204128665G>T , CM000663.1:g.204128665G>T GRCh37
NC_000001.9:g.202395288G>T NCBI36
NG_012122.1:g.11801C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.551C>A MANE Select ENSP00000272190.8:p.Pro184His
ENST00000638118.1:c.437C>A ENSP00000490307.1:p.Pro146His
ENST00000272190.8:c.551C>A ENSP00000272190.8:p.Pro184His
NM_000537.3:c.551C>A NP_000528.1:p.Pro184His
NM_000537.4:c.551C>A MANE Select NP_000528.1:p.Pro184His
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