Canonical Allele Identifier: CA344338417
Gene: REN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.204128661G>T (hg19) chr1:g.204159533G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159533G>T , CM000663.2:g.204159533G>T GRCh38
NC_000001.10:g.204128661G>T , CM000663.1:g.204128661G>T GRCh37
NC_000001.9:g.202395284G>T NCBI36
NG_012122.1:g.11805C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.555C>A MANE Select ENSP00000272190.8:p.Phe185Leu
ENST00000638118.1:c.441C>A ENSP00000490307.1:p.Phe147Leu
ENST00000272190.8:c.555C>A ENSP00000272190.8:p.Phe185Leu
NM_000537.3:c.555C>A NP_000528.1:p.Phe185Leu
NM_000537.4:c.555C>A MANE Select NP_000528.1:p.Phe185Leu
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