Canonical Allele Identifier: CA344332287

Gene: REN

Linked Data

• dbSNP Id: rs1304427544
• MyVariant Identifiers: chr1:g.204124218C>A (hg19) ; chr1:g.204155090C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204155090C>A , CM000663.2:g.204155090C>A	GRCh38
NC_000001.10:g.204124218C>A , CM000663.1:g.204124218C>A	GRCh37
NC_000001.9:g.202390841C>A	NCBI36
NG_012122.1:g.16248G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272190.9:c.1147G>T MANE Select	ENSP00000272190.8:p.Ala383Ser
ENST00000638118.1:c.1033G>T	ENSP00000490307.1:p.Ala345Ser
ENST00000272190.8:c.1147G>T	ENSP00000272190.8:p.Ala383Ser
NM_000537.3:c.1147G>T	NP_000528.1:p.Ala383Ser
NM_000537.4:c.1147G>T MANE Select	NP_000528.1:p.Ala383Ser