Canonical Allele Identifier: CA344338243
Gene: REN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.204128639C>G (hg19) chr1:g.204159511C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159511C>G , CM000663.2:g.204159511C>G GRCh38
NC_000001.10:g.204128639C>G , CM000663.1:g.204128639C>G GRCh37
NC_000001.9:g.202395262C>G NCBI36
NG_012122.1:g.11827G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.577G>C MANE Select ENSP00000272190.8:p.Val193Leu
ENST00000638118.1:c.463G>C ENSP00000490307.1:p.Val155Leu
ENST00000272190.8:c.577G>C ENSP00000272190.8:p.Val193Leu
NM_000537.3:c.577G>C NP_000528.1:p.Val193Leu
NM_000537.4:c.577G>C MANE Select NP_000528.1:p.Val193Leu
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