Canonical Allele Identifier: CA1344865
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs755890508
ExAC: 1:204128529 G / C
gnomAD v2: 1-204128529-G-C
gnomAD v4: 1-204159401-G-C
MyVariant Identifiers: chr1:g.204128529G>C (hg19) chr1:g.204159401G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159401G>C , CM000663.2:g.204159401G>C GRCh38
NC_000001.10:g.204128529G>C , CM000663.1:g.204128529G>C GRCh37
NC_000001.9:g.202395152G>C NCBI36
NG_012122.1:g.11937C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.687C>G MANE Select ENSP00000272190.8:p.Asn229Lys
ENST00000638118.1:c.573C>G ENSP00000490307.1:p.Asn191Lys
ENST00000272190.8:c.687C>G ENSP00000272190.8:p.Asn229Lys
NM_000537.3:c.687C>G NP_000528.1:p.Asn229Lys
NM_000537.4:c.687C>G MANE Select NP_000528.1:p.Asn229Lys
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