Canonical Allele Identifier: CA344343059
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1456036182
gnomAD v2: 1-204135388-G-T
gnomAD v4: 1-204166260-G-T
COSMIC: COSM5613886
MyVariant Identifiers: chr1:g.204135388G>T (hg19) chr1:g.204166260G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204166260G>T , CM000663.2:g.204166260G>T GRCh38
NC_000001.10:g.204135388G>T , CM000663.1:g.204135388G>T GRCh37
NC_000001.9:g.202402011G>T NCBI36
NG_012122.1:g.5078C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.34C>A MANE Select ENSP00000272190.8:p.Leu12Met
ENST00000638118.1:c.-16-4097C>A ENSP00000490307.1:n.-16-4097C>A
ENST00000272190.8:c.34C>A ENSP00000272190.8:p.Leu12Met
NM_000537.3:c.34C>A NP_000528.1:p.Leu12Met
NM_000537.4:c.34C>A MANE Select NP_000528.1:p.Leu12Met
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