Canonical Allele Identifier: CA9964143

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63661404G>A , CM000682.2:g.63661404G>A	GRCh38
NC_000020.10:g.62292757G>A , CM000682.1:g.62292757G>A	GRCh37
NC_000020.9:g.61763201G>A	NCBI36
NG_033901.1:g.8595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488316.2:n.479G>A (RTEL1)
ENST00000508582.7:c.209G>A (RTEL1)	ENSP00000424307.2:p.Arg70His
ENST00000684971.1:n.534G>A (RTEL1)
ENST00000686756.1:n.527G>A (RTEL1)
ENST00000692658.1:n.541G>A (RTEL1)
ENST00000692911.1:n.936G>A (RTEL1)
ENST00000318100.9:c.-461G>A (RTEL1)	ENSP00000322287.5:n.-461G>A
ENST00000360203.11:c.209G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Arg70His
ENST00000482936.6:c.209G>A (RTEL1)	ENSP00000457868.2:p.Arg70His
ENST00000646389.1:c.209G>A (RTEL1)	ENSP00000494280.1:p.Arg70His
ENST00000318100.8:c.-461G>A (RTEL1)	ENSP00000322287.5:n.-461G>A
ENST00000356810.5:c.209G>A (RTEL1)	ENSP00000349265.4:p.Arg70His
ENST00000360203.9:c.209G>A (RTEL1)	ENSP00000353332.5:p.Arg70His
ENST00000370018.7:c.209G>A (RTEL1)	ENSP00000359035.3:p.Arg70His
ENST00000482936.5:c.209G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Arg70His
ENST00000488316.1:n.463G>A (RTEL1)
ENST00000492259.6:c.209G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Arg70His
ENST00000508582.6:c.209G>A (RTEL1)	ENSP00000424307.2:p.Arg70His
NM_001283009.1:c.209G>A (RTEL1)	NP_001269938.1:p.Arg70His
NM_001283010.1:c.-461G>A (RTEL1)	NP_001269939.1:n.-461G>A
NM_016434.3:c.209G>A (RTEL1)	NP_057518.1:p.Arg70His
NM_032957.4:c.209G>A (RTEL1)	NP_116575.3:p.Arg70His
NR_037882.1:n.1036G>A (RTEL1-TNFRSF6B)
NM_001283009.2:c.209G>A (RTEL1) MANE Select	NP_001269938.1:p.Arg70His
NM_016434.4:c.209G>A (RTEL1)	NP_057518.1:p.Arg70His
NM_032957.5:c.209G>A (RTEL1)	NP_116575.3:p.Arg70His