Canonical Allele Identifier: CA422837947
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1658225287
gnomAD v4: 1-204160566-G-A
MyVariant Identifiers: chr1:g.204129694G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204160566G>A , CM000663.2:g.204160566G>A GRCh38
NC_000001.10:g.204129694G>A , CM000663.1:g.204129694G>A GRCh37
NC_000001.9:g.202396317G>A NCBI36
NG_012122.1:g.10772C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.486C>T MANE Select ENSP00000272190.8:p.Ile162=
ENST00000638118.1:c.372C>T ENSP00000490307.1:p.Ile124=
ENST00000272190.8:c.486C>T ENSP00000272190.8:p.Ile162=
NM_000537.3:c.486C>T NP_000528.1:p.Ile162=
NM_000537.4:c.486C>T MANE Select NP_000528.1:p.Ile162=
Search 100 bp 5'
Search 100 bp 3'