Canonical Allele Identifier: CA1344855
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs573919483
ExAC: 1:204128490 G / A
gnomAD v2: 1-204128490-G-A
gnomAD v3: 1-204159362-G-A
gnomAD v4: 1-204159362-G-A
MyVariant Identifiers: chr1:g.204128490G>A (hg19) chr1:g.204159362G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159362G>A , CM000663.2:g.204159362G>A GRCh38
NC_000001.10:g.204128490G>A , CM000663.1:g.204128490G>A GRCh37
NC_000001.9:g.202395113G>A NCBI36
NG_012122.1:g.11976C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.689+37C>T MANE Select ENSP00000272190.8:n.689+37C>T
ENST00000638118.1:c.575+37C>T ENSP00000490307.1:n.575+37C>T
ENST00000272190.8:c.689+37C>T ENSP00000272190.8:n.689+37C>T
NM_000537.3:c.689+37C>T NP_000528.1:n.689+37C>T
NM_000537.4:c.689+37C>T MANE Select NP_000528.1:n.689+37C>T
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