Canonical Allele Identifier: CA390995584

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883075C>T , CM000676.2:g.100883075C>T GRCh38
NC_000014.8:g.101349412C>T , CM000676.1:g.101349412C>T GRCh37
NC_000014.7:g.100419165C>T NCBI36
NG_045001.1:g.6773G>A
NG_045000.5:g.51807C>T
NG_045000.6:g.51807C>T
NG_045001.2:g.25648G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1714G>A (RTL1) MANE Select ENSP00000497482.1:p.Asp572Asn
ENST00000534062.1:c.1714G>A (RTL1) ENSP00000435342.1:p.Asp572Asn
NM_001134888.2:c.1714G>A (RTL1) NP_001128360.1:p.Asp572Asn
NR_029696.1:n.97C>T (MIR127)
NM_001134888.3:c.1714G>A (RTL1) MANE Select NP_001128360.1:p.Asp572Asn