Canonical Allele Identifier: CA390996127
Gene: RTL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.101349664C>A (hg19) chr14:g.100883327C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883327C>A , CM000676.2:g.100883327C>A GRCh38
NC_000014.8:g.101349664C>A , CM000676.1:g.101349664C>A GRCh37
NC_000014.7:g.100419417C>A NCBI36
NG_045001.1:g.6521G>T
NG_045000.5:g.52059C>A
NG_045000.6:g.52059C>A
NG_045001.2:g.25396G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1462G>T MANE Select ENSP00000497482.1:p.Glu488Ter
ENST00000534062.1:c.1462G>T ENSP00000435342.1:p.Glu488Ter
NM_001134888.2:c.1462G>T NP_001128360.1:p.Glu488Ter
NM_001134888.3:c.1462G>T MANE Select NP_001128360.1:p.Glu488Ter
Search 100 bp 5'
Search 100 bp 3'