Canonical Allele Identifier: CA7347313
Gene: RTL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2208207
ClinVar RCV Id: RCV004076638
dbSNP Id: rs556259813
ExAC: 14:101349681 A / G
gnomAD v2: 14-101349681-A-G
gnomAD v3: 14-100883344-A-G
gnomAD v4: 14-100883344-A-G
MyVariant Identifiers: chr14:g.101349681A>G (hg19) chr14:g.100883344A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883344A>G , CM000676.2:g.100883344A>G GRCh38
NC_000014.8:g.101349681A>G , CM000676.1:g.101349681A>G GRCh37
NC_000014.7:g.100419434A>G NCBI36
NG_045001.1:g.6504T>C
NG_045000.5:g.52076A>G
NG_045000.6:g.52076A>G
NG_045001.2:g.25379T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1445T>C MANE Select ENSP00000497482.1:p.Ile482Thr
ENST00000534062.1:c.1445T>C ENSP00000435342.1:p.Ile482Thr
NM_001134888.2:c.1445T>C NP_001128360.1:p.Ile482Thr
NM_001134888.3:c.1445T>C MANE Select NP_001128360.1:p.Ile482Thr
Search 100 bp 5'
Search 100 bp 3'