Canonical Allele Identifier: CA1344645
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs753179547
ExAC: 1:204124215 T / C
gnomAD v4: 1-204155087-T-C
MyVariant Identifiers: chr1:g.204124215T>C (hg19) chr1:g.204155087T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204155087T>C , CM000663.2:g.204155087T>C GRCh38
NC_000001.10:g.204124215T>C , CM000663.1:g.204124215T>C GRCh37
NC_000001.9:g.202390838T>C NCBI36
NG_012122.1:g.16251A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.1150A>G MANE Select ENSP00000272190.8:p.Thr384Ala
ENST00000638118.1:c.1036A>G ENSP00000490307.1:p.Thr346Ala
ENST00000272190.8:c.1150A>G ENSP00000272190.8:p.Thr384Ala
NM_000537.3:c.1150A>G NP_000528.1:p.Thr384Ala
NM_000537.4:c.1150A>G MANE Select NP_000528.1:p.Thr384Ala
Search 100 bp 5'
Search 100 bp 3'