Canonical Allele Identifier: CA9964547

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• ClinVar Variation Id: 473899
• ClinVar RCV Id: RCV000536702 ; RCV001007595 ; RCV000990339 ; RCV001829595 ; RCV002404541 ; RCV003480684
• dbSNP Id: rs113684274
• ExAC: 20:62309633 G / A
• gnomAD v2: 20-62309633-G-A
• gnomAD v3: 20-63678280-G-A
• gnomAD v4: 20-63678280-G-A
• MyVariant Identifiers: chr20:g.62309633G>A (hg19) ; chr20:g.63678280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63678280G>A , CM000682.2:g.63678280G>A	GRCh38
NC_000020.10:g.62309633G>A , CM000682.1:g.62309633G>A	GRCh37
NC_000020.9:g.61780077G>A	NCBI36
NG_033901.1:g.25471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.645G>A (RTEL1)
ENST00000425905.6:c.645G>A (RTEL1)
ENST00000508582.7:c.1043G>A (RTEL1)	ENSP00000424307.2:p.Arg348His
ENST00000684971.1:n.1402G>A (RTEL1)
ENST00000686756.1:n.1289G>A (RTEL1)
ENST00000687123.1:n.801G>A (RTEL1)
ENST00000692658.1:n.1409G>A (RTEL1)
ENST00000318100.9:c.302G>A (RTEL1)	ENSP00000322287.5:p.Arg101His
ENST00000360203.11:c.971G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Arg324His
ENST00000482936.6:c.971G>A (RTEL1)	ENSP00000457868.2:p.Arg324His
ENST00000318100.8:c.302G>A (RTEL1)	ENSP00000322287.5:p.Arg101His
ENST00000360203.9:c.971G>A (RTEL1)	ENSP00000353332.5:p.Arg324His
ENST00000370018.7:c.971G>A (RTEL1)	ENSP00000359035.3:p.Arg324His
ENST00000482936.5:c.971G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Arg324His
ENST00000492259.6:c.1055G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Arg352His
ENST00000508582.6:c.1043G>A (RTEL1)	ENSP00000424307.2:p.Arg348His
NM_001283009.1:c.971G>A (RTEL1)	NP_001269938.1:p.Arg324His
NM_001283010.1:c.302G>A (RTEL1)	NP_001269939.1:p.Arg101His
NM_016434.3:c.971G>A (RTEL1)	NP_057518.1:p.Arg324His
NM_032957.4:c.1043G>A (RTEL1)	NP_116575.3:p.Arg348His
NR_037882.1:n.1798G>A (RTEL1-TNFRSF6B)
NM_001283009.2:c.971G>A (RTEL1) MANE Select	NP_001269938.1:p.Arg324His
NM_016434.4:c.971G>A (RTEL1)	NP_057518.1:p.Arg324His
NM_032957.5:c.1043G>A (RTEL1)	NP_116575.3:p.Arg348His