Canonical Allele Identifier: CA344339796
Gene: REN HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.204129795G>T (hg19) chr1:g.204160667G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204160667G>T , CM000663.2:g.204160667G>T GRCh38
NC_000001.10:g.204129795G>T , CM000663.1:g.204129795G>T GRCh37
NC_000001.9:g.202396418G>T NCBI36
NG_012122.1:g.10671C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.385C>A MANE Select ENSP00000272190.8:p.Leu129Ile
ENST00000638118.1:c.271C>A ENSP00000490307.1:p.Leu91Ile
ENST00000272190.8:c.385C>A ENSP00000272190.8:p.Leu129Ile
NM_000537.3:c.385C>A NP_000528.1:p.Leu129Ile
NM_000537.4:c.385C>A MANE Select NP_000528.1:p.Leu129Ile
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