Canonical Allele Identifier: CA528190262
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1016938847
gnomAD v2: 1-204128763-C-A
gnomAD v4: 1-204159635-C-A
MyVariant Identifiers: chr1:g.204128763C>A (hg19) chr1:g.204159635C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159635C>A , CM000663.2:g.204159635C>A GRCh38
NC_000001.10:g.204128763C>A , CM000663.1:g.204128763C>A GRCh37
NC_000001.9:g.202395386C>A NCBI36
NG_012122.1:g.11703G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.493-40G>T MANE Select ENSP00000272190.8:n.493-40G>T
ENST00000638118.1:c.379-40G>T ENSP00000490307.1:n.379-40G>T
ENST00000272190.8:c.493-40G>T ENSP00000272190.8:n.493-40G>T
NM_000537.3:c.493-40G>T NP_000528.1:n.493-40G>T
NM_000537.4:c.493-40G>T MANE Select NP_000528.1:n.493-40G>T
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