Canonical Allele Identifier: CA409669461
Community Standard Title: NM_001283009.2(RTEL1):c.396-2A>G
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63662544A>G , CM000682.2:g.63662544A>G GRCh38
NC_000020.10:g.62293897A>G , CM000682.1:g.62293897A>G GRCh37
NC_000020.9:g.61764341A>G NCBI36
NG_033901.1:g.9735A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.396-2A>G (RTEL1) MANE Select NP_001269938.1:n.396-2A>G
ENST00000360203.11:c.396-2A>G (RTEL1) MANE Select ENSP00000353332.5:n.396-2A>G
NM_001283009.1:c.396-2A>G (RTEL1) NP_001269938.1:n.396-2A>G
NM_001283010.1:c.-274-2A>G (RTEL1) NP_001269939.1:n.-274-2A>G
NM_016434.3:c.396-2A>G (RTEL1) NP_057518.1:n.396-2A>G
NM_016434.4:c.396-2A>G (RTEL1) NP_057518.1:n.396-2A>G
NM_032957.4:c.466A>G (RTEL1) NP_116575.3:p.Arg156Gly
NM_032957.5:c.466A>G (RTEL1) NP_116575.3:p.Arg156Gly
NR_037882.1:n.1223-2A>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-274-2A>G (RTEL1) ENSP00000322287.5:n.-274-2A>G
ENST00000318100.9:c.-274-2A>G (RTEL1) ENSP00000322287.5:n.-274-2A>G
ENST00000356810.5:c.544A>G (RTEL1) ENSP00000349265.4:p.Arg182Gly
ENST00000360203.9:c.396-2A>G (RTEL1) ENSP00000353332.5:n.396-2A>G
ENST00000370018.7:c.396-2A>G (RTEL1) ENSP00000359035.3:n.396-2A>G
ENST00000425905.6:c.70-2A>G (RTEL1)
ENST00000425905.7:n.70-2A>G (RTEL1)
ENST00000482936.5:c.396-2A>G (RTEL1-TNFRSF6B) ENSP00000457868.1:n.396-2A>G
ENST00000482936.6:c.396-2A>G (RTEL1) ENSP00000457868.2:n.396-2A>G
ENST00000492259.6:c.396-2A>G (RTEL1-TNFRSF6B) ENSP00000457428.1:n.396-2A>G
ENST00000508582.6:c.466A>G (RTEL1) ENSP00000424307.2:p.Arg156Gly
ENST00000508582.7:c.466A>G (RTEL1) ENSP00000424307.2:p.Arg156Gly
ENST00000645309.1:n.91A>G (RTEL1)
ENST00000684971.1:n.827-2A>G (RTEL1)
ENST00000686756.1:n.714-2A>G (RTEL1)
ENST00000687123.1:n.226-2A>G (RTEL1)
ENST00000692658.1:n.834-2A>G (RTEL1)
ENST00000692911.1:n.1123-2A>G (RTEL1)