Canonical Allele Identifier: CA344342025

Gene: REN

Linked Data

• MyVariant Identifiers: chr1:g.204131257T>G (hg19) ; chr1:g.204162129T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204162129T>G , CM000663.2:g.204162129T>G	GRCh38
NC_000001.10:g.204131257T>G , CM000663.1:g.204131257T>G	GRCh37
NC_000001.9:g.202397880T>G	NCBI36
NG_012122.1:g.9209A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.133A>C MANE Select	ENSP00000272190.8:p.Ser45Arg
ENST00000638118.1:c.19A>C	ENSP00000490307.1:p.Ser7Arg
ENST00000272190.8:c.133A>C	ENSP00000272190.8:p.Ser45Arg
NM_000537.3:c.133A>C	NP_000528.1:p.Ser45Arg
NM_000537.4:c.133A>C MANE Select	NP_000528.1:p.Ser45Arg