Canonical Allele Identifier: CA409669176
Community Standard Title: NM_001283009.2(RTEL1):c.396-74A>C
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63662472A>C , CM000682.2:g.63662472A>C GRCh38
NC_000020.10:g.62293825A>C , CM000682.1:g.62293825A>C GRCh37
NC_000020.9:g.61764269A>C NCBI36
NG_033901.1:g.9663A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.396-74A>C (RTEL1) MANE Select NP_001269938.1:n.396-74A>C
ENST00000360203.11:c.396-74A>C (RTEL1) MANE Select ENSP00000353332.5:n.396-74A>C
NM_001283009.1:c.396-74A>C (RTEL1) NP_001269938.1:n.396-74A>C
NM_001283010.1:c.-274-74A>C (RTEL1) NP_001269939.1:n.-274-74A>C
NM_016434.3:c.396-74A>C (RTEL1) NP_057518.1:n.396-74A>C
NM_016434.4:c.396-74A>C (RTEL1) NP_057518.1:n.396-74A>C
NM_032957.4:c.396-2A>C (RTEL1) NP_116575.3:n.396-2A>C
NM_032957.5:c.396-2A>C (RTEL1) NP_116575.3:n.396-2A>C
NR_037882.1:n.1223-74A>C (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-274-74A>C (RTEL1) ENSP00000322287.5:n.-274-74A>C
ENST00000318100.9:c.-274-74A>C (RTEL1) ENSP00000322287.5:n.-274-74A>C
ENST00000356810.5:c.472A>C (RTEL1) ENSP00000349265.4:p.Ser158Arg
ENST00000360203.9:c.396-74A>C (RTEL1) ENSP00000353332.5:n.396-74A>C
ENST00000370018.7:c.396-74A>C (RTEL1) ENSP00000359035.3:n.396-74A>C
ENST00000425905.6:c.70-74A>C (RTEL1)
ENST00000425905.7:n.70-74A>C (RTEL1)
ENST00000482936.5:c.396-74A>C (RTEL1-TNFRSF6B) ENSP00000457868.1:n.396-74A>C
ENST00000482936.6:c.396-74A>C (RTEL1) ENSP00000457868.2:n.396-74A>C
ENST00000492259.6:c.396-74A>C (RTEL1-TNFRSF6B) ENSP00000457428.1:n.396-74A>C
ENST00000508582.6:c.396-2A>C (RTEL1) ENSP00000424307.2:n.396-2A>C
ENST00000508582.7:c.396-2A>C (RTEL1) ENSP00000424307.2:n.396-2A>C
ENST00000645309.1:n.19A>C (RTEL1)
ENST00000684971.1:n.827-74A>C (RTEL1)
ENST00000686756.1:n.714-74A>C (RTEL1)
ENST00000687123.1:n.226-74A>C (RTEL1)
ENST00000692658.1:n.834-74A>C (RTEL1)
ENST00000692911.1:n.1123-74A>C (RTEL1)