Canonical Allele Identifier: CA344337593
Gene: REN HGNC NCBI

Linked Data

gnomAD v4: 1-204159408-T-C
COSMIC: COSM1725431
MyVariant Identifiers: chr1:g.204128536T>C (hg19) chr1:g.204159408T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159408T>C , CM000663.2:g.204159408T>C GRCh38
NC_000001.10:g.204128536T>C , CM000663.1:g.204128536T>C GRCh37
NC_000001.9:g.202395159T>C NCBI36
NG_012122.1:g.11930A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.680A>G MANE Select ENSP00000272190.8:p.Tyr227Cys
ENST00000638118.1:c.566A>G ENSP00000490307.1:p.Tyr189Cys
ENST00000272190.8:c.680A>G ENSP00000272190.8:p.Tyr227Cys
NM_000537.3:c.680A>G NP_000528.1:p.Tyr227Cys
NM_000537.4:c.680A>G MANE Select NP_000528.1:p.Tyr227Cys
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