Canonical Allele Identifier: CA390994676
Gene: RTL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2618117
ClinVar RCV Id: RCV004362925
gnomAD v4: 14-100882682-A-G
MyVariant Identifiers: chr14:g.101349019A>G (hg19) chr14:g.100882682A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882682A>G , CM000676.2:g.100882682A>G GRCh38
NC_000014.8:g.101349019A>G , CM000676.1:g.101349019A>G GRCh37
NC_000014.7:g.100418772A>G NCBI36
NG_045001.1:g.7166T>C
NG_045000.5:g.51414A>G
NG_045000.6:g.51414A>G
NG_045001.2:g.26041T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2107T>C MANE Select ENSP00000497482.1:p.Phe703Leu
ENST00000534062.1:c.2107T>C ENSP00000435342.1:p.Phe703Leu
NM_001134888.2:c.2107T>C NP_001128360.1:p.Phe703Leu
NM_001134888.3:c.2107T>C MANE Select NP_001128360.1:p.Phe703Leu
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