Canonical Allele Identifier: CA344338236
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1658206283
gnomAD v3: 1-204159510-A-G
gnomAD v4: 1-204159510-A-G
MyVariant Identifiers: chr1:g.204128638A>G (hg19) chr1:g.204159510A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159510A>G , CM000663.2:g.204159510A>G GRCh38
NC_000001.10:g.204128638A>G , CM000663.1:g.204128638A>G GRCh37
NC_000001.9:g.202395261A>G NCBI36
NG_012122.1:g.11828T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.578T>C MANE Select ENSP00000272190.8:p.Val193Ala
ENST00000638118.1:c.464T>C ENSP00000490307.1:p.Val155Ala
ENST00000272190.8:c.578T>C ENSP00000272190.8:p.Val193Ala
NM_000537.3:c.578T>C NP_000528.1:p.Val193Ala
NM_000537.4:c.578T>C MANE Select NP_000528.1:p.Val193Ala
Search 100 bp 5'
Search 100 bp 3'