Canonical Allele Identifier: CA35739738
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1014000037
gnomAD v2: 1-204134697-G-A
gnomAD v3: 1-204165569-G-A
gnomAD v4: 1-204165569-G-A
MyVariant Identifiers: chr1:g.204134697G>A (hg19) chr1:g.204165569G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204165569G>A , CM000663.2:g.204165569G>A GRCh38
NC_000001.10:g.204134697G>A , CM000663.1:g.204134697G>A GRCh37
NC_000001.9:g.202401320G>A NCBI36
NG_012122.1:g.5769C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.98+627C>T MANE Select ENSP00000272190.8:n.98+627C>T
ENST00000638118.1:c.-16-3406C>T ENSP00000490307.1:n.-16-3406C>T
ENST00000272190.8:c.98+627C>T ENSP00000272190.8:n.98+627C>T
NM_000537.3:c.98+627C>T NP_000528.1:n.98+627C>T
NM_000537.4:c.98+627C>T MANE Select NP_000528.1:n.98+627C>T
Search 100 bp 5'
Search 100 bp 3'