Canonical Allele Identifier: CA1011401041
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1323922048
gnomAD v3: 1-204161988-G-A
gnomAD v4: 1-204161988-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204161988G>A , CM000663.2:g.204161988G>A GRCh38
NC_000001.10:g.204131116G>A , CM000663.1:g.204131116G>A GRCh37
NC_000001.9:g.202397739G>A NCBI36
NG_012122.1:g.9350C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.249+25C>T MANE Select ENSP00000272190.8:n.249+25C>T
ENST00000638118.1:c.135+25C>T ENSP00000490307.1:n.135+25C>T
ENST00000272190.8:c.249+25C>T ENSP00000272190.8:n.249+25C>T
NM_000537.3:c.249+25C>T NP_000528.1:n.249+25C>T
NM_000537.4:c.249+25C>T MANE Select NP_000528.1:n.249+25C>T
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