Canonical Allele Identifier: CA344341529
Gene: REN HGNC NCBI

Linked Data

gnomAD v3: 1-204162029-A-T
gnomAD v4: 1-204162029-A-T
MyVariant Identifiers: chr1:g.204131157A>T (hg19) chr1:g.204162029A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204162029A>T , CM000663.2:g.204162029A>T GRCh38
NC_000001.10:g.204131157A>T , CM000663.1:g.204131157A>T GRCh37
NC_000001.9:g.202397780A>T NCBI36
NG_012122.1:g.9309T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.233T>A MANE Select ENSP00000272190.8:p.Leu78His
ENST00000638118.1:c.119T>A ENSP00000490307.1:p.Leu40His
ENST00000272190.8:c.233T>A ENSP00000272190.8:p.Leu78His
NM_000537.3:c.233T>A NP_000528.1:p.Leu78His
NM_000537.4:c.233T>A MANE Select NP_000528.1:p.Leu78His
Search 100 bp 5'
Search 100 bp 3'