Canonical Allele Identifier: CA344338746
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1166573542
gnomAD v2: 1-204128711-T-C
gnomAD v3: 1-204159583-T-C
gnomAD v4: 1-204159583-T-C
MyVariant Identifiers: chr1:g.204128711T>C (hg19) chr1:g.204159583T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159583T>C , CM000663.2:g.204159583T>C GRCh38
NC_000001.10:g.204128711T>C , CM000663.1:g.204128711T>C GRCh37
NC_000001.9:g.202395334T>C NCBI36
NG_012122.1:g.11755A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.505A>G MANE Select ENSP00000272190.8:p.Thr169Ala
ENST00000638118.1:c.391A>G ENSP00000490307.1:p.Thr131Ala
ENST00000272190.8:c.505A>G ENSP00000272190.8:p.Thr169Ala
NM_000537.3:c.505A>G NP_000528.1:p.Thr169Ala
NM_000537.4:c.505A>G MANE Select NP_000528.1:p.Thr169Ala
Search 100 bp 5'
Search 100 bp 3'