Canonical Allele Identifier: CA390995945
Gene: RTL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883243C>A , CM000676.2:g.100883243C>A GRCh38
NC_000014.8:g.101349580C>A , CM000676.1:g.101349580C>A GRCh37
NC_000014.7:g.100419333C>A NCBI36
NG_045001.1:g.6605G>T
NG_045000.5:g.51975C>A
NG_045000.6:g.51975C>A
NG_045001.2:g.25480G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1546G>T MANE Select ENSP00000497482.1:p.Val516Phe
ENST00000534062.1:c.1546G>T ENSP00000435342.1:p.Val516Phe
NM_001134888.2:c.1546G>T NP_001128360.1:p.Val516Phe
NM_001134888.3:c.1546G>T MANE Select NP_001128360.1:p.Val516Phe