Canonical Allele Identifier: CA1345046
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs367565954
ExAC: 1:204131225 C / G
gnomAD v2: 1-204131225-C-G
gnomAD v4: 1-204162097-C-G
MyVariant Identifiers: chr1:g.204131225C>G (hg19) chr1:g.204162097C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204162097C>G , CM000663.2:g.204162097C>G GRCh38
NC_000001.10:g.204131225C>G , CM000663.1:g.204131225C>G GRCh37
NC_000001.9:g.202397848C>G NCBI36
NG_012122.1:g.9241G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.165G>C MANE Select ENSP00000272190.8:p.Arg55Ser
ENST00000638118.1:c.51G>C ENSP00000490307.1:p.Arg17Ser
ENST00000272190.8:c.165G>C ENSP00000272190.8:p.Arg55Ser
NM_000537.3:c.165G>C NP_000528.1:p.Arg55Ser
NM_000537.4:c.165G>C MANE Select NP_000528.1:p.Arg55Ser
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Search 100 bp 3'