Canonical Allele Identifier: CA390995961
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs1261020224

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883251G>A , CM000676.2:g.100883251G>A GRCh38
NC_000014.8:g.101349588G>A , CM000676.1:g.101349588G>A GRCh37
NC_000014.7:g.100419341G>A NCBI36
NG_045001.1:g.6597C>T
NG_045000.5:g.51983G>A
NG_045000.6:g.51983G>A
NG_045001.2:g.25472C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1538C>T MANE Select ENSP00000497482.1:p.Ala513Val
ENST00000534062.1:c.1538C>T ENSP00000435342.1:p.Ala513Val
NM_001134888.2:c.1538C>T NP_001128360.1:p.Ala513Val
NM_001134888.3:c.1538C>T MANE Select NP_001128360.1:p.Ala513Val