Canonical Allele Identifier: CA9964973

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63688594A>G , CM000682.2:g.63688594A>G	GRCh38
NC_000020.10:g.62319947A>G , CM000682.1:g.62319947A>G	GRCh37
NC_000020.9:g.61790391A>G	NCBI36
NG_033901.1:g.35785A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.1789A>G (RTEL1) MANE Select	NP_001269938.1:p.Ser597Gly
ENST00000360203.11:c.1789A>G (RTEL1) MANE Select	ENSP00000353332.5:p.Ser597Gly
NM_001283009.1:c.1789A>G (RTEL1)	NP_001269938.1:p.Ser597Gly
NM_001283010.1:c.1120A>G (RTEL1)	NP_001269939.1:p.Ser374Gly
NM_016434.3:c.1789A>G (RTEL1)	NP_057518.1:p.Ser597Gly
NM_016434.4:c.1789A>G (RTEL1)	NP_057518.1:p.Ser597Gly
NM_032957.4:c.1861A>G (RTEL1)	NP_116575.3:p.Ser621Gly
NM_032957.5:c.1861A>G (RTEL1)	NP_116575.3:p.Ser621Gly
NR_037882.1:n.2616A>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1120A>G (RTEL1)	ENSP00000322287.5:p.Ser374Gly
ENST00000318100.9:c.1120A>G (RTEL1)	ENSP00000322287.5:p.Ser374Gly
ENST00000360203.9:c.1789A>G (RTEL1)	ENSP00000353332.5:p.Ser597Gly
ENST00000370018.7:c.1789A>G (RTEL1)	ENSP00000359035.3:p.Ser597Gly
ENST00000425905.5:c.115A>G (RTEL1)	ENSP00000388063.1:p.Ser39Gly
ENST00000425905.6:c.1463A>G (RTEL1)
ENST00000425905.7:n.1463A>G (RTEL1)
ENST00000480273.5:n.1874A>G (RTEL1-TNFRSF6B)
ENST00000482936.5:c.1789A>G (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Ser597Gly
ENST00000482936.6:c.1789A>G (RTEL1)	ENSP00000457868.2:p.Ser597Gly
ENST00000492259.6:c.1873A>G (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Ser625Gly
ENST00000496281.2:n.163A>G (RTEL1-TNFRSF6B)
ENST00000508582.6:c.1861A>G (RTEL1)	ENSP00000424307.2:p.Ser621Gly
ENST00000508582.7:c.1861A>G (RTEL1)	ENSP00000424307.2:p.Ser621Gly
ENST00000687123.1:n.1619A>G (RTEL1)