Canonical Allele Identifier: CA1344884
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs754808366
ExAC: 1:204128620 A / G
gnomAD v2: 1-204128620-A-G
gnomAD v3: 1-204159492-A-G
gnomAD v4: 1-204159492-A-G
MyVariant Identifiers: chr1:g.204128620A>G (hg19) chr1:g.204159492A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159492A>G , CM000663.2:g.204159492A>G GRCh38
NC_000001.10:g.204128620A>G , CM000663.1:g.204128620A>G GRCh37
NC_000001.9:g.202395243A>G NCBI36
NG_012122.1:g.11846T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.596T>C MANE Select ENSP00000272190.8:p.Ile199Thr
ENST00000638118.1:c.482T>C ENSP00000490307.1:p.Ile161Thr
ENST00000272190.8:c.596T>C ENSP00000272190.8:p.Ile199Thr
NM_000537.3:c.596T>C NP_000528.1:p.Ile199Thr
NM_000537.4:c.596T>C MANE Select NP_000528.1:p.Ile199Thr
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