Canonical Allele Identifier: CA344342017
Gene: REN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.204131254G>C (hg19) chr1:g.204162126G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204162126G>C , CM000663.2:g.204162126G>C GRCh38
NC_000001.10:g.204131254G>C , CM000663.1:g.204131254G>C GRCh37
NC_000001.9:g.202397877G>C NCBI36
NG_012122.1:g.9212C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.136C>G MANE Select ENSP00000272190.8:p.Leu46Val
ENST00000638118.1:c.22C>G ENSP00000490307.1:p.Leu8Val
ENST00000272190.8:c.136C>G ENSP00000272190.8:p.Leu46Val
NM_000537.3:c.136C>G NP_000528.1:p.Leu46Val
NM_000537.4:c.136C>G MANE Select NP_000528.1:p.Leu46Val
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