Canonical Allele Identifier: CA344338680

Gene: REN

Linked Data

• MyVariant Identifiers: chr1:g.204128700C>G (hg19) ; chr1:g.204159572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204159572C>G , CM000663.2:g.204159572C>G	GRCh38
NC_000001.10:g.204128700C>G , CM000663.1:g.204128700C>G	GRCh37
NC_000001.9:g.202395323C>G	NCBI36
NG_012122.1:g.11766G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.516G>C MANE Select	ENSP00000272190.8:p.Gln172His
ENST00000638118.1:c.402G>C	ENSP00000490307.1:p.Gln134His
ENST00000272190.8:c.516G>C	ENSP00000272190.8:p.Gln172His
NM_000537.3:c.516G>C	NP_000528.1:p.Gln172His
NM_000537.4:c.516G>C MANE Select	NP_000528.1:p.Gln172His