Canonical Allele Identifier: CA390995544

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883059T>G , CM000676.2:g.100883059T>G GRCh38
NC_000014.8:g.101349396T>G , CM000676.1:g.101349396T>G GRCh37
NC_000014.7:g.100419149T>G NCBI36
NG_045001.1:g.6789A>C
NG_045000.5:g.51791T>G
NG_045000.6:g.51791T>G
NG_045001.2:g.25664A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1730A>C (RTL1) MANE Select ENSP00000497482.1:p.Asp577Ala
ENST00000534062.1:c.1730A>C (RTL1) ENSP00000435342.1:p.Asp577Ala
NM_001134888.2:c.1730A>C (RTL1) NP_001128360.1:p.Asp577Ala
NR_029696.1:n.81T>G (MIR127)
NM_001134888.3:c.1730A>C (RTL1) MANE Select NP_001128360.1:p.Asp577Ala