Canonical Allele Identifier: CA488181946
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs2140036456
gnomAD v3: 14-100883322-G-C
gnomAD v4: 14-100883322-G-C
MyVariant Identifiers: chr14:g.101349659G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883322G>C , CM000676.2:g.100883322G>C GRCh38
NC_000014.8:g.101349659G>C , CM000676.1:g.101349659G>C GRCh37
NC_000014.7:g.100419412G>C NCBI36
NG_045001.1:g.6526C>G
NG_045000.5:g.52054G>C
NG_045000.6:g.52054G>C
NG_045001.2:g.25401C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1467C>G MANE Select ENSP00000497482.1:p.Ser489=
ENST00000534062.1:c.1467C>G ENSP00000435342.1:p.Ser489=
NM_001134888.2:c.1467C>G NP_001128360.1:p.Ser489=
NM_001134888.3:c.1467C>G MANE Select NP_001128360.1:p.Ser489=
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