Canonical Allele Identifier: CA746489652

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• dbSNP Id: rs1421523507
• gnomAD v3: 20-63671686-T-G
• gnomAD v4: 20-63671686-T-G
• MyVariant Identifiers: chr20:g.62303039T>G (hg19) ; chr20:g.63671686T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63671686T>G , CM000682.2:g.63671686T>G	GRCh38
NC_000020.10:g.62303039T>G , CM000682.1:g.62303039T>G	GRCh37
NC_000020.9:g.61773483T>G	NCBI36
NG_033901.1:g.18877T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000425905.7:n.374-870T>G (RTEL1)
ENST00000425905.6:c.374-870T>G (RTEL1)
ENST00000508582.7:c.772-870T>G (RTEL1)	ENSP00000424307.2:n.772-870T>G
ENST00000684971.1:n.1131-870T>G (RTEL1)
ENST00000686756.1:n.1018-870T>G (RTEL1)
ENST00000687123.1:n.530-870T>G (RTEL1)
ENST00000692658.1:n.1138-870T>G (RTEL1)
ENST00000692911.1:n.1427-870T>G (RTEL1)
ENST00000318100.9:c.31-870T>G (RTEL1)	ENSP00000322287.5:n.31-870T>G
ENST00000360203.11:c.700-870T>G (RTEL1) MANE Select	ENSP00000353332.5:n.700-870T>G
ENST00000482936.6:c.700-870T>G (RTEL1)	ENSP00000457868.2:n.700-870T>G
ENST00000318100.8:c.31-870T>G (RTEL1)	ENSP00000322287.5:n.31-870T>G
ENST00000356810.5:c.850-870T>G (RTEL1)	ENSP00000349265.4:n.850-870T>G
ENST00000360203.9:c.700-870T>G (RTEL1)	ENSP00000353332.5:n.700-870T>G
ENST00000370018.7:c.700-870T>G (RTEL1)	ENSP00000359035.3:n.700-870T>G
ENST00000463361.1:n.397-870T>G (RTEL1)
ENST00000482936.5:c.700-870T>G (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.700-870T>G
ENST00000492259.6:c.700-870T>G (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.700-870T>G
ENST00000508582.6:c.772-870T>G (RTEL1)	ENSP00000424307.2:n.772-870T>G
NM_001283009.1:c.700-870T>G (RTEL1)	NP_001269938.1:n.700-870T>G
NM_001283010.1:c.31-870T>G (RTEL1)	NP_001269939.1:n.31-870T>G
NM_016434.3:c.700-870T>G (RTEL1)	NP_057518.1:n.700-870T>G
NM_032957.4:c.772-870T>G (RTEL1)	NP_116575.3:n.772-870T>G
NR_037882.1:n.1527-870T>G (RTEL1-TNFRSF6B)
NM_001283009.2:c.700-870T>G (RTEL1) MANE Select	NP_001269938.1:n.700-870T>G
NM_016434.4:c.700-870T>G (RTEL1)	NP_057518.1:n.700-870T>G
NM_032957.5:c.772-870T>G (RTEL1)	NP_116575.3:n.772-870T>G