Canonical Allele Identifier: CA344341924
Gene: REN HGNC NCBI

Linked Data

gnomAD v4: 1-204162101-G-A
MyVariant Identifiers: chr1:g.204131229G>A (hg19) chr1:g.204162101G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204162101G>A , CM000663.2:g.204162101G>A GRCh38
NC_000001.10:g.204131229G>A , CM000663.1:g.204131229G>A GRCh37
NC_000001.9:g.202397852G>A NCBI36
NG_012122.1:g.9237C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.161C>T MANE Select ENSP00000272190.8:p.Ala54Val
ENST00000638118.1:c.47C>T ENSP00000490307.1:p.Ala16Val
ENST00000272190.8:c.161C>T ENSP00000272190.8:p.Ala54Val
NM_000537.3:c.161C>T NP_000528.1:p.Ala54Val
NM_000537.4:c.161C>T MANE Select NP_000528.1:p.Ala54Val
Search 100 bp 5'
Search 100 bp 3'