Canonical Allele Identifier: CA344338655
Gene: REN HGNC NCBI

Linked Data

ClinVar Variation Id: 2741004
ClinVar RCV Id: RCV003575929
gnomAD v4: 1-204159570-A-G
MyVariant Identifiers: chr1:g.204128698A>G (hg19) chr1:g.204159570A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159570A>G , CM000663.2:g.204159570A>G GRCh38
NC_000001.10:g.204128698A>G , CM000663.1:g.204128698A>G GRCh37
NC_000001.9:g.202395321A>G NCBI36
NG_012122.1:g.11768T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.518T>C MANE Select ENSP00000272190.8:p.Met173Thr
ENST00000638118.1:c.404T>C ENSP00000490307.1:p.Met135Thr
ENST00000272190.8:c.518T>C ENSP00000272190.8:p.Met173Thr
NM_000537.3:c.518T>C NP_000528.1:p.Met173Thr
NM_000537.4:c.518T>C MANE Select NP_000528.1:p.Met173Thr
Search 100 bp 5'
Search 100 bp 3'