Canonical Allele Identifier: CA1344867
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs749227987
ExAC: 1:204128531 T / A
gnomAD v2: 1-204128531-T-A
gnomAD v4: 1-204159403-T-A
MyVariant Identifiers: chr1:g.204128531T>A (hg19) chr1:g.204159403T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159403T>A , CM000663.2:g.204159403T>A GRCh38
NC_000001.10:g.204128531T>A , CM000663.1:g.204128531T>A GRCh37
NC_000001.9:g.202395154T>A NCBI36
NG_012122.1:g.11935A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.685A>T MANE Select ENSP00000272190.8:p.Asn229Tyr
ENST00000638118.1:c.571A>T ENSP00000490307.1:p.Asn191Tyr
ENST00000272190.8:c.685A>T ENSP00000272190.8:p.Asn229Tyr
NM_000537.3:c.685A>T NP_000528.1:p.Asn229Tyr
NM_000537.4:c.685A>T MANE Select NP_000528.1:p.Asn229Tyr
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