Canonical Allele Identifier: CA528190250
Gene: REN HGNC NCBI

Linked Data

dbSNP Id: rs1394764958
gnomAD v2: 1-204128736-G-C
gnomAD v3: 1-204159608-G-C
gnomAD v4: 1-204159608-G-C
MyVariant Identifiers: chr1:g.204128736G>C (hg19) chr1:g.204159608G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204159608G>C , CM000663.2:g.204159608G>C GRCh38
NC_000001.10:g.204128736G>C , CM000663.1:g.204128736G>C GRCh37
NC_000001.9:g.202395359G>C NCBI36
NG_012122.1:g.11730C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.493-13C>G MANE Select ENSP00000272190.8:n.493-13C>G
ENST00000638118.1:c.379-13C>G ENSP00000490307.1:n.379-13C>G
ENST00000272190.8:c.493-13C>G ENSP00000272190.8:n.493-13C>G
NM_000537.3:c.493-13C>G NP_000528.1:n.493-13C>G
NM_000537.4:c.493-13C>G MANE Select NP_000528.1:n.493-13C>G
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