Canonical Allele Identifier: CA266905947
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs978027407
gnomAD v2: 14-101349901-G-C
gnomAD v4: 14-100883564-G-C
MyVariant Identifiers: chr14:g.101349901G>C (hg19) chr14:g.100883564G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883564G>C , CM000676.2:g.100883564G>C GRCh38
NC_000014.8:g.101349901G>C , CM000676.1:g.101349901G>C GRCh37
NC_000014.7:g.100419654G>C NCBI36
NG_045001.1:g.6284C>G
NG_045000.5:g.52296G>C
NG_045000.6:g.52296G>C
NG_045001.2:g.25159C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1225C>G MANE Select ENSP00000497482.1:p.Leu409Val
ENST00000534062.1:c.1225C>G ENSP00000435342.1:p.Leu409Val
NM_001134888.2:c.1225C>G NP_001128360.1:p.Leu409Val
NM_001134888.3:c.1225C>G MANE Select NP_001128360.1:p.Leu409Val
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