Canonical Allele Identifier: CA35734623
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs139795475
gnomAD v2: 1-204128702-G-C
gnomAD v4: 1-204159574-G-C
MyVariant Identifiers: chr1:g.204128702G>C (hg19) chr1:g.204159574G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159574G>C , CM000663.2:g.204159574G>C GRCh38
NC_000001.10:g.204128702G>C , CM000663.1:g.204128702G>C GRCh37
NC_000001.9:g.202395325G>C NCBI36
NG_012122.1:g.11764C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.514C>G MANE Select ENSP00000272190.8:p.Gln172Glu
ENST00000638118.1:c.400C>G ENSP00000490307.1:p.Gln134Glu
ENST00000272190.8:c.514C>G ENSP00000272190.8:p.Gln172Glu
NM_000537.3:c.514C>G NP_000528.1:p.Gln172Glu
NM_000537.4:c.514C>G MANE Select NP_000528.1:p.Gln172Glu
Search 100 bp 5'
Search 100 bp 3'