Canonical Allele Identifier: CA1344879
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs544315427
ExAC: 1:204128594 G / A
gnomAD v2: 1-204128594-G-A
gnomAD v3: 1-204159466-G-A
gnomAD v4: 1-204159466-G-A
MyVariant Identifiers: chr1:g.204128594G>A (hg19) chr1:g.204159466G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159466G>A , CM000663.2:g.204159466G>A GRCh38
NC_000001.10:g.204128594G>A , CM000663.1:g.204128594G>A GRCh37
NC_000001.9:g.202395217G>A NCBI36
NG_012122.1:g.11872C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.622C>T MANE Select ENSP00000272190.8:p.Pro208Ser
ENST00000638118.1:c.508C>T ENSP00000490307.1:p.Pro170Ser
ENST00000272190.8:c.622C>T ENSP00000272190.8:p.Pro208Ser
NM_000537.3:c.622C>T NP_000528.1:p.Pro208Ser
NM_000537.4:c.622C>T MANE Select NP_000528.1:p.Pro208Ser
Search 100 bp 5'
Search 100 bp 3'