Canonical Allele Identifier: CA390996608
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs967069517
gnomAD v3: 14-100883542-C-G
gnomAD v4: 14-100883542-C-G
MyVariant Identifiers: chr14:g.101349879C>G (hg19) chr14:g.100883542C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883542C>G , CM000676.2:g.100883542C>G GRCh38
NC_000014.8:g.101349879C>G , CM000676.1:g.101349879C>G GRCh37
NC_000014.7:g.100419632C>G NCBI36
NG_045001.1:g.6306G>C
NG_045000.5:g.52274C>G
NG_045000.6:g.52274C>G
NG_045001.2:g.25181G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1247G>C MANE Select ENSP00000497482.1:p.Arg416Thr
ENST00000534062.1:c.1247G>C ENSP00000435342.1:p.Arg416Thr
NM_001134888.2:c.1247G>C NP_001128360.1:p.Arg416Thr
NM_001134888.3:c.1247G>C MANE Select NP_001128360.1:p.Arg416Thr
Search 100 bp 5'
Search 100 bp 3'