Canonical Allele Identifier: CA1344873
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs765560519
ExAC: 1:204128572 G / T
gnomAD v2: 1-204128572-G-T
MyVariant Identifiers: chr1:g.204128572G>T (hg19) chr1:g.204159444G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159444G>T , CM000663.2:g.204159444G>T GRCh38
NC_000001.10:g.204128572G>T , CM000663.1:g.204128572G>T GRCh37
NC_000001.9:g.202395195G>T NCBI36
NG_012122.1:g.11894C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.644C>A MANE Select ENSP00000272190.8:p.Ser215Tyr
ENST00000638118.1:c.530C>A ENSP00000490307.1:p.Ser177Tyr
ENST00000272190.8:c.644C>A ENSP00000272190.8:p.Ser215Tyr
NM_000537.3:c.644C>A NP_000528.1:p.Ser215Tyr
NM_000537.4:c.644C>A MANE Select NP_000528.1:p.Ser215Tyr
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