Canonical Allele Identifier: CA390995240
Gene: RTL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882925T>A , CM000676.2:g.100882925T>A GRCh38
NC_000014.8:g.101349262T>A , CM000676.1:g.101349262T>A GRCh37
NC_000014.7:g.100419015T>A NCBI36
NG_045001.1:g.6923A>T
NG_045000.5:g.51657T>A
NG_045000.6:g.51657T>A
NG_045001.2:g.25798A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1864A>T MANE Select ENSP00000497482.1:p.Arg622Trp
ENST00000534062.1:c.1864A>T ENSP00000435342.1:p.Arg622Trp
NM_001134888.2:c.1864A>T NP_001128360.1:p.Arg622Trp
NM_001134888.3:c.1864A>T MANE Select NP_001128360.1:p.Arg622Trp