Canonical Allele Identifier: CA390996284
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100883399-C-A
MyVariant Identifiers: chr14:g.101349736C>A (hg19) chr14:g.100883399C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883399C>A , CM000676.2:g.100883399C>A GRCh38
NC_000014.8:g.101349736C>A , CM000676.1:g.101349736C>A GRCh37
NC_000014.7:g.100419489C>A NCBI36
NG_045001.1:g.6449G>T
NG_045000.5:g.52131C>A
NG_045000.6:g.52131C>A
NG_045001.2:g.25324G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1390G>T MANE Select ENSP00000497482.1:p.Gly464Cys
ENST00000534062.1:c.1390G>T ENSP00000435342.1:p.Gly464Cys
NM_001134888.2:c.1390G>T NP_001128360.1:p.Gly464Cys
NM_001134888.3:c.1390G>T MANE Select NP_001128360.1:p.Gly464Cys
Search 100 bp 5'
Search 100 bp 3'