Canonical Allele Identifier: CA528190046
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1177116442
gnomAD v2: 1-204128456-C-T
gnomAD v4: 1-204159328-C-T
MyVariant Identifiers: chr1:g.204128456C>T (hg19) chr1:g.204159328C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159328C>T , CM000663.2:g.204159328C>T GRCh38
NC_000001.10:g.204128456C>T , CM000663.1:g.204128456C>T GRCh37
NC_000001.9:g.202395079C>T NCBI36
NG_012122.1:g.12010G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272190.9:c.689+71G>A MANE Select ENSP00000272190.8:n.689+71G>A
ENST00000638118.1:c.575+71G>A ENSP00000490307.1:n.575+71G>A
ENST00000272190.8:c.689+71G>A ENSP00000272190.8:n.689+71G>A
NM_000537.3:c.689+71G>A NP_000528.1:n.689+71G>A
NM_000537.4:c.689+71G>A MANE Select NP_000528.1:n.689+71G>A
Search 100 bp 5'
Search 100 bp 3'