Canonical Allele Identifier: CA344337994
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1381119367
gnomAD v2: 1-204128599-A-C
MyVariant Identifiers: chr1:g.204128599A>C (hg19) chr1:g.204159471A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159471A>C , CM000663.2:g.204159471A>C GRCh38
NC_000001.10:g.204128599A>C , CM000663.1:g.204128599A>C GRCh37
NC_000001.9:g.202395222A>C NCBI36
NG_012122.1:g.11867T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.617T>G MANE Select ENSP00000272190.8:p.Val206Gly
ENST00000638118.1:c.503T>G ENSP00000490307.1:p.Val168Gly
ENST00000272190.8:c.617T>G ENSP00000272190.8:p.Val206Gly
NM_000537.3:c.617T>G NP_000528.1:p.Val206Gly
NM_000537.4:c.617T>G MANE Select NP_000528.1:p.Val206Gly
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Search 100 bp 3'