Canonical Allele Identifier: CA636354353

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• ClinVar Variation Id: 1941207
• ClinVar RCV Id: RCV002675575
• dbSNP Id: rs1376001934
• gnomAD v2: 20-62303905-G-A
• gnomAD v4: 20-63672552-G-A
• MyVariant Identifiers: chr20:g.62303905G>A (hg19) ; chr20:g.63672552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672552G>A , CM000682.2:g.63672552G>A	GRCh38
NC_000020.10:g.62303905G>A , CM000682.1:g.62303905G>A	GRCh37
NC_000020.9:g.61774349G>A	NCBI36
NG_033901.1:g.19743G>A

Transcript Alleles

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