Canonical Allele Identifier: CA344343039
Gene: REN HGNC NCBI

Linked Data

gnomAD v4: 1-204166248-G-A
MyVariant Identifiers: chr1:g.204135376G>A (hg19) chr1:g.204166248G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204166248G>A , CM000663.2:g.204166248G>A GRCh38
NC_000001.10:g.204135376G>A , CM000663.1:g.204135376G>A GRCh37
NC_000001.9:g.202401999G>A NCBI36
NG_012122.1:g.5090C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.46C>T MANE Select ENSP00000272190.8:p.Leu16Phe
ENST00000638118.1:c.-16-4085C>T ENSP00000490307.1:n.-16-4085C>T
ENST00000272190.8:c.46C>T ENSP00000272190.8:p.Leu16Phe
NM_000537.3:c.46C>T NP_000528.1:p.Leu16Phe
NM_000537.4:c.46C>T MANE Select NP_000528.1:p.Leu16Phe
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