Canonical Allele Identifier: CA344338380
Gene: REN HGNC NCBI

Linked Data

gnomAD v4: 1-204159529-G-T
MyVariant Identifiers: chr1:g.204128657G>T (hg19) chr1:g.204159529G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159529G>T , CM000663.2:g.204159529G>T GRCh38
NC_000001.10:g.204128657G>T , CM000663.1:g.204128657G>T GRCh37
NC_000001.9:g.202395280G>T NCBI36
NG_012122.1:g.11809C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.559C>A MANE Select ENSP00000272190.8:p.Leu187Met
ENST00000638118.1:c.445C>A ENSP00000490307.1:p.Leu149Met
ENST00000272190.8:c.559C>A ENSP00000272190.8:p.Leu187Met
NM_000537.3:c.559C>A NP_000528.1:p.Leu187Met
NM_000537.4:c.559C>A MANE Select NP_000528.1:p.Leu187Met
Search 100 bp 5'
Search 100 bp 3'