Canonical Allele Identifier: CA528191378
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1306936154
gnomAD v2: 1-204134526-T-G
gnomAD v3: 1-204165398-T-G
gnomAD v4: 1-204165398-T-G
MyVariant Identifiers: chr1:g.204134526T>G (hg19) chr1:g.204165398T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204165398T>G , CM000663.2:g.204165398T>G GRCh38
NC_000001.10:g.204134526T>G , CM000663.1:g.204134526T>G GRCh37
NC_000001.9:g.202401149T>G NCBI36
NG_012122.1:g.5940A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.98+798A>C MANE Select ENSP00000272190.8:n.98+798A>C
ENST00000638118.1:c.-16-3235A>C ENSP00000490307.1:n.-16-3235A>C
ENST00000272190.8:c.98+798A>C ENSP00000272190.8:n.98+798A>C
NM_000537.3:c.98+798A>C NP_000528.1:n.98+798A>C
NM_000537.4:c.98+798A>C MANE Select NP_000528.1:n.98+798A>C
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