Canonical Allele Identifier: CA730338857
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1417847928
gnomAD v3: 1-204159323-C-G
gnomAD v4: 1-204159323-C-G
MyVariant Identifiers: chr1:g.204128451C>G (hg19) chr1:g.204159323C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159323C>G , CM000663.2:g.204159323C>G GRCh38
NC_000001.10:g.204128451C>G , CM000663.1:g.204128451C>G GRCh37
NC_000001.9:g.202395074C>G NCBI36
NG_012122.1:g.12015G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.689+76G>C MANE Select ENSP00000272190.8:n.689+76G>C
ENST00000638118.1:c.575+76G>C ENSP00000490307.1:n.575+76G>C
ENST00000272190.8:c.689+76G>C ENSP00000272190.8:n.689+76G>C
NM_000537.3:c.689+76G>C NP_000528.1:n.689+76G>C
NM_000537.4:c.689+76G>C MANE Select NP_000528.1:n.689+76G>C
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