Canonical Allele Identifier: CA317497430
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63660246C>G , CM000682.2:g.63660246C>G GRCh38
NC_000020.10:g.62291599C>G , CM000682.1:g.62291599C>G GRCh37
NC_000020.9:g.61762043C>G NCBI36
NG_033901.1:g.7437C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488316.2:n.372+742C>G (RTEL1)
ENST00000508582.7:c.102+742C>G (RTEL1) ENSP00000424307.2:n.102+742C>G
ENST00000684971.1:n.427+742C>G (RTEL1)
ENST00000686756.1:n.420+742C>G (RTEL1)
ENST00000692658.1:n.434+742C>G (RTEL1)
ENST00000692911.1:n.829+742C>G (RTEL1)
ENST00000318100.9:c.-567-1052C>G (RTEL1) ENSP00000322287.5:n.-567-1052C>G
ENST00000360203.11:c.102+742C>G (RTEL1) MANE Select ENSP00000353332.5:n.102+742C>G
ENST00000482936.6:c.102+742C>G (RTEL1) ENSP00000457868.2:n.102+742C>G
ENST00000646389.1:c.102+742C>G (RTEL1) ENSP00000494280.1:n.102+742C>G
ENST00000318100.8:c.-567-1052C>G (RTEL1) ENSP00000322287.5:n.-567-1052C>G
ENST00000356810.5:c.102+742C>G (RTEL1) ENSP00000349265.4:n.102+742C>G
ENST00000360203.9:c.102+742C>G (RTEL1) ENSP00000353332.5:n.102+742C>G
ENST00000370018.7:c.102+742C>G (RTEL1) ENSP00000359035.3:n.102+742C>G
ENST00000469728.5:n.446-430C>G (RTEL1)
ENST00000482936.5:c.102+742C>G (RTEL1-TNFRSF6B) ENSP00000457868.1:n.102+742C>G
ENST00000488316.1:n.356+742C>G (RTEL1)
ENST00000492259.6:c.102+742C>G (RTEL1-TNFRSF6B) ENSP00000457428.1:n.102+742C>G
ENST00000508582.6:c.102+742C>G (RTEL1) ENSP00000424307.2:n.102+742C>G
NM_001283009.1:c.102+742C>G (RTEL1) NP_001269938.1:n.102+742C>G
NM_001283010.1:c.-567-1052C>G (RTEL1) NP_001269939.1:n.-567-1052C>G
NM_016434.3:c.102+742C>G (RTEL1) NP_057518.1:n.102+742C>G
NM_032957.4:c.102+742C>G (RTEL1) NP_116575.3:n.102+742C>G
NR_037882.1:n.929+742C>G (RTEL1-TNFRSF6B)
NM_001283009.2:c.102+742C>G (RTEL1) MANE Select NP_001269938.1:n.102+742C>G
NM_016434.4:c.102+742C>G (RTEL1) NP_057518.1:n.102+742C>G
NM_032957.5:c.102+742C>G (RTEL1) NP_116575.3:n.102+742C>G
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