Canonical Allele Identifier: CA390995425

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883007C>A , CM000676.2:g.100883007C>A GRCh38
NC_000014.8:g.101349344C>A , CM000676.1:g.101349344C>A GRCh37
NC_000014.7:g.100419097C>A NCBI36
NG_045001.1:g.6841G>T
NG_045000.5:g.51739C>A
NG_045000.6:g.51739C>A
NG_045001.2:g.25716G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1782G>T (RTL1) MANE Select ENSP00000497482.1:p.Glu594Asp
ENST00000534062.1:c.1782G>T (RTL1) ENSP00000435342.1:p.Glu594Asp
NM_001134888.2:c.1782G>T (RTL1) NP_001128360.1:p.Glu594Asp
NR_029696.1:n.29C>A (MIR127)
NM_001134888.3:c.1782G>T (RTL1) MANE Select NP_001128360.1:p.Glu594Asp