Canonical Allele Identifier: CA1344643
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs759852484
ExAC: 1:204124208 A / G
gnomAD v2: 1-204124208-A-G
gnomAD v3: 1-204155080-A-G
gnomAD v4: 1-204155080-A-G
MyVariant Identifiers: chr1:g.204124208A>G (hg19) chr1:g.204155080A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204155080A>G , CM000663.2:g.204155080A>G GRCh38
NC_000001.10:g.204124208A>G , CM000663.1:g.204124208A>G GRCh37
NC_000001.9:g.202390831A>G NCBI36
NG_012122.1:g.16258T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.1157T>C MANE Select ENSP00000272190.8:p.Ile386Thr
ENST00000638118.1:c.1043T>C ENSP00000490307.1:p.Ile348Thr
ENST00000272190.8:c.1157T>C ENSP00000272190.8:p.Ile386Thr
NM_000537.3:c.1157T>C NP_000528.1:p.Ile386Thr
NM_000537.4:c.1157T>C MANE Select NP_000528.1:p.Ile386Thr
Search 100 bp 5'
Search 100 bp 3'