Canonical Allele Identifier: CA488181652
Gene: RTL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.101349560G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883223G>C , CM000676.2:g.100883223G>C GRCh38
NC_000014.8:g.101349560G>C , CM000676.1:g.101349560G>C GRCh37
NC_000014.7:g.100419313G>C NCBI36
NG_045001.1:g.6625C>G
NG_045000.5:g.51955G>C
NG_045000.6:g.51955G>C
NG_045001.2:g.25500C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1566C>G MANE Select ENSP00000497482.1:p.Arg522=
ENST00000534062.1:c.1566C>G ENSP00000435342.1:p.Arg522=
NM_001134888.2:c.1566C>G NP_001128360.1:p.Arg522=
NM_001134888.3:c.1566C>G MANE Select NP_001128360.1:p.Arg522=