Canonical Allele Identifier: CA35734590
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs371237692
gnomAD v2: 1-204128643-A-G
gnomAD v3: 1-204159515-A-G
gnomAD v4: 1-204159515-A-G
MyVariant Identifiers: chr1:g.204128643A>G (hg19) chr1:g.204159515A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159515A>G , CM000663.2:g.204159515A>G GRCh38
NC_000001.10:g.204128643A>G , CM000663.1:g.204128643A>G GRCh37
NC_000001.9:g.202395266A>G NCBI36
NG_012122.1:g.11823T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.573T>C MANE Select ENSP00000272190.8:p.Asp191=
ENST00000638118.1:c.459T>C ENSP00000490307.1:p.Asp153=
ENST00000272190.8:c.573T>C ENSP00000272190.8:p.Asp191=
NM_000537.3:c.573T>C NP_000528.1:p.Asp191=
NM_000537.4:c.573T>C MANE Select NP_000528.1:p.Asp191=
Search 100 bp 5'
Search 100 bp 3'