Canonical Allele Identifier: CA409669832
Community Standard Title: NM_001283009.2(RTEL1):c.478-2A>G
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63662827A>G , CM000682.2:g.63662827A>G GRCh38
NC_000020.10:g.62294180A>G , CM000682.1:g.62294180A>G GRCh37
NC_000020.9:g.61764624A>G NCBI36
NG_033901.1:g.10018A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.478-2A>G (RTEL1) MANE Select NP_001269938.1:n.478-2A>G
ENST00000360203.11:c.478-2A>G (RTEL1) MANE Select ENSP00000353332.5:n.478-2A>G
NM_001283009.1:c.478-2A>G (RTEL1) NP_001269938.1:n.478-2A>G
NM_001283010.1:c.-192-2A>G (RTEL1) NP_001269939.1:n.-192-2A>G
NM_016434.3:c.478-2A>G (RTEL1) NP_057518.1:n.478-2A>G
NM_016434.4:c.478-2A>G (RTEL1) NP_057518.1:n.478-2A>G
NM_032957.4:c.550-2A>G (RTEL1) NP_116575.3:n.550-2A>G
NM_032957.5:c.550-2A>G (RTEL1) NP_116575.3:n.550-2A>G
NR_037882.1:n.1305-2A>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-192-2A>G (RTEL1) ENSP00000322287.5:n.-192-2A>G
ENST00000318100.9:c.-192-2A>G (RTEL1) ENSP00000322287.5:n.-192-2A>G
ENST00000356810.5:c.628-2A>G (RTEL1) ENSP00000349265.4:n.628-2A>G
ENST00000360203.9:c.478-2A>G (RTEL1) ENSP00000353332.5:n.478-2A>G
ENST00000370018.7:c.478-2A>G (RTEL1) ENSP00000359035.3:n.478-2A>G
ENST00000425905.6:c.152-2A>G (RTEL1)
ENST00000425905.7:n.152-2A>G (RTEL1)
ENST00000482936.5:c.478-2A>G (RTEL1-TNFRSF6B) ENSP00000457868.1:n.478-2A>G
ENST00000482936.6:c.478-2A>G (RTEL1) ENSP00000457868.2:n.478-2A>G
ENST00000492259.6:c.478-2A>G (RTEL1-TNFRSF6B) ENSP00000457428.1:n.478-2A>G
ENST00000508582.6:c.550-2A>G (RTEL1) ENSP00000424307.2:n.550-2A>G
ENST00000508582.7:c.550-2A>G (RTEL1) ENSP00000424307.2:n.550-2A>G
ENST00000645309.1:n.175-2A>G (RTEL1)
ENST00000684971.1:n.909-2A>G (RTEL1)
ENST00000686756.1:n.796-2A>G (RTEL1)
ENST00000687123.1:n.308-2A>G (RTEL1)
ENST00000692658.1:n.916-2A>G (RTEL1)
ENST00000692911.1:n.1205-2A>G (RTEL1)