Canonical Allele Identifier: CA422837379
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1241348568
gnomAD v3: 1-204159470-G-T
gnomAD v4: 1-204159470-G-T
MyVariant Identifiers: chr1:g.204128598G>T (hg19) chr1:g.204159470G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159470G>T , CM000663.2:g.204159470G>T GRCh38
NC_000001.10:g.204128598G>T , CM000663.1:g.204128598G>T GRCh37
NC_000001.9:g.202395221G>T NCBI36
NG_012122.1:g.11868C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.618C>A MANE Select ENSP00000272190.8:p.Val206=
ENST00000638118.1:c.504C>A ENSP00000490307.1:p.Val168=
ENST00000272190.8:c.618C>A ENSP00000272190.8:p.Val206=
NM_000537.3:c.618C>A NP_000528.1:p.Val206=
NM_000537.4:c.618C>A MANE Select NP_000528.1:p.Val206=
Search 100 bp 5'
Search 100 bp 3'