Canonical Allele Identifier: CA35739725
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs769416223
gnomAD v2: 1-204134671-C-T
gnomAD v3: 1-204165543-C-T
gnomAD v4: 1-204165543-C-T
MyVariant Identifiers: chr1:g.204134671C>T (hg19) chr1:g.204165543C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204165543C>T , CM000663.2:g.204165543C>T GRCh38
NC_000001.10:g.204134671C>T , CM000663.1:g.204134671C>T GRCh37
NC_000001.9:g.202401294C>T NCBI36
NG_012122.1:g.5795G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.98+653G>A MANE Select ENSP00000272190.8:n.98+653G>A
ENST00000638118.1:c.-16-3380G>A ENSP00000490307.1:n.-16-3380G>A
ENST00000272190.8:c.98+653G>A ENSP00000272190.8:n.98+653G>A
NM_000537.3:c.98+653G>A NP_000528.1:n.98+653G>A
NM_000537.4:c.98+653G>A MANE Select NP_000528.1:n.98+653G>A
Search 100 bp 5'
Search 100 bp 3'