Canonical Allele Identifier: CA488181851
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs2038651196
gnomAD v3: 14-100883514-G-T
gnomAD v4: 14-100883514-G-T
MyVariant Identifiers: chr14:g.101349851G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883514G>T , CM000676.2:g.100883514G>T GRCh38
NC_000014.8:g.101349851G>T , CM000676.1:g.101349851G>T GRCh37
NC_000014.7:g.100419604G>T NCBI36
NG_045001.1:g.6334C>A
NG_045000.5:g.52246G>T
NG_045000.6:g.52246G>T
NG_045001.2:g.25209C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1275C>A MANE Select ENSP00000497482.1:p.Val425=
ENST00000534062.1:c.1275C>A ENSP00000435342.1:p.Val425=
NM_001134888.2:c.1275C>A NP_001128360.1:p.Val425=
NM_001134888.3:c.1275C>A MANE Select NP_001128360.1:p.Val425=
Search 100 bp 5'
Search 100 bp 3'