Canonical Allele Identifier: CA390994654
Gene: RTL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.101349009G>C (hg19) chr14:g.100882672G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882672G>C , CM000676.2:g.100882672G>C GRCh38
NC_000014.8:g.101349009G>C , CM000676.1:g.101349009G>C GRCh37
NC_000014.7:g.100418762G>C NCBI36
NG_045001.1:g.7176C>G
NG_045000.5:g.51404G>C
NG_045000.6:g.51404G>C
NG_045001.2:g.26051C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2117C>G MANE Select ENSP00000497482.1:p.Ser706Cys
ENST00000534062.1:c.2117C>G ENSP00000435342.1:p.Ser706Cys
NM_001134888.2:c.2117C>G NP_001128360.1:p.Ser706Cys
NM_001134888.3:c.2117C>G MANE Select NP_001128360.1:p.Ser706Cys
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