Canonical Allele Identifier: CA390995365

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882982G>C , CM000676.2:g.100882982G>C GRCh38
NC_000014.8:g.101349319G>C , CM000676.1:g.101349319G>C GRCh37
NC_000014.7:g.100419072G>C NCBI36
NG_045001.1:g.6866C>G
NG_045000.5:g.51714G>C
NG_045000.6:g.51714G>C
NG_045001.2:g.25741C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1807C>G (RTL1) MANE Select ENSP00000497482.1:p.His603Asp
ENST00000534062.1:c.1807C>G (RTL1) ENSP00000435342.1:p.His603Asp
NM_001134888.2:c.1807C>G (RTL1) NP_001128360.1:p.His603Asp
NR_029696.1:n.4G>C (MIR127)
NM_001134888.3:c.1807C>G (RTL1) MANE Select NP_001128360.1:p.His603Asp