Canonical Allele Identifier: CA390996234
Gene: RTL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.101349709A>C (hg19) chr14:g.100883372A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883372A>C , CM000676.2:g.100883372A>C GRCh38
NC_000014.8:g.101349709A>C , CM000676.1:g.101349709A>C GRCh37
NC_000014.7:g.100419462A>C NCBI36
NG_045001.1:g.6476T>G
NG_045000.5:g.52104A>C
NG_045000.6:g.52104A>C
NG_045001.2:g.25351T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1417T>G MANE Select ENSP00000497482.1:p.Trp473Gly
ENST00000534062.1:c.1417T>G ENSP00000435342.1:p.Trp473Gly
NM_001134888.2:c.1417T>G NP_001128360.1:p.Trp473Gly
NM_001134888.3:c.1417T>G MANE Select NP_001128360.1:p.Trp473Gly
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