Canonical Allele Identifier: CA746492895

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63678486A>C , CM000682.2:g.63678486A>C	GRCh38
NC_000020.10:g.62309839A>C , CM000682.1:g.62309839A>C	GRCh37
NC_000020.9:g.61780283A>C	NCBI36
NG_033901.1:g.25677A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.711+140A>C (RTEL1)
ENST00000425905.6:c.711+140A>C (RTEL1)
ENST00000508582.7:c.1109+140A>C (RTEL1)	ENSP00000424307.2:n.1109+140A>C
ENST00000684971.1:n.1468+140A>C (RTEL1)
ENST00000686756.1:n.1495A>C (RTEL1)
ENST00000687123.1:n.867+140A>C (RTEL1)
ENST00000692658.1:n.1615A>C (RTEL1)
ENST00000318100.9:c.368+140A>C (RTEL1)	ENSP00000322287.5:n.368+140A>C
ENST00000360203.11:c.1037+140A>C (RTEL1) MANE Select	ENSP00000353332.5:n.1037+140A>C
ENST00000482936.6:c.1037+140A>C (RTEL1)	ENSP00000457868.2:n.1037+140A>C
ENST00000318100.8:c.368+140A>C (RTEL1)	ENSP00000322287.5:n.368+140A>C
ENST00000360203.9:c.1037+140A>C (RTEL1)	ENSP00000353332.5:n.1037+140A>C
ENST00000370018.7:c.1037+140A>C (RTEL1)	ENSP00000359035.3:n.1037+140A>C
ENST00000482936.5:c.1037+140A>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.1037+140A>C
ENST00000492259.6:c.1121+140A>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.1121+140A>C
ENST00000508582.6:c.1109+140A>C (RTEL1)	ENSP00000424307.2:n.1109+140A>C
NM_001283009.1:c.1037+140A>C (RTEL1)	NP_001269938.1:n.1037+140A>C
NM_001283010.1:c.368+140A>C (RTEL1)	NP_001269939.1:n.368+140A>C
NM_016434.3:c.1037+140A>C (RTEL1)	NP_057518.1:n.1037+140A>C
NM_032957.4:c.1109+140A>C (RTEL1)	NP_116575.3:n.1109+140A>C
NR_037882.1:n.1864+140A>C (RTEL1-TNFRSF6B)
NM_001283009.2:c.1037+140A>C (RTEL1) MANE Select	NP_001269938.1:n.1037+140A>C
NM_016434.4:c.1037+140A>C (RTEL1)	NP_057518.1:n.1037+140A>C
NM_032957.5:c.1109+140A>C (RTEL1)	NP_116575.3:n.1109+140A>C