Canonical Allele Identifier: CA35734584
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs150122510
COSMIC: COSM108338
MyVariant Identifiers: chr1:g.204128622G>A (hg19) chr1:g.204159494G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159494G>A , CM000663.2:g.204159494G>A GRCh38
NC_000001.10:g.204128622G>A , CM000663.1:g.204128622G>A GRCh37
NC_000001.9:g.202395245G>A NCBI36
NG_012122.1:g.11844C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.594C>T MANE Select ENSP00000272190.8:p.Phe198=
ENST00000638118.1:c.480C>T ENSP00000490307.1:p.Phe160=
ENST00000272190.8:c.594C>T ENSP00000272190.8:p.Phe198=
NM_000537.3:c.594C>T NP_000528.1:p.Phe198=
NM_000537.4:c.594C>T MANE Select NP_000528.1:p.Phe198=
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