Canonical Allele Identifier: CA14782122
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Linked Data

ClinVar Variation Id: 1224071
ClinVar RCV Id: RCV001594586
dbSNP Id: rs2297440
gnomAD v2: 20-62312299-T-C
gnomAD v3: 20-63680946-T-C
gnomAD v4: 20-63680946-T-C
MyVariant Identifiers: chr20:g.62312299T>C (hg19) chr20:g.63680946T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63680946T>C , CM000682.2:g.63680946T>C GRCh38
NC_000020.10:g.62312299T>C , CM000682.1:g.62312299T>C GRCh37
NC_000020.9:g.61782743T>C NCBI36
NG_033901.1:g.28137T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000425905.7:n.865+227T>C (RTEL1)
ENST00000425905.6:c.865+227T>C (RTEL1)
ENST00000508582.7:c.1263+227T>C (RTEL1) ENSP00000424307.2:n.1263+227T>C
ENST00000687123.1:n.1021+227T>C (RTEL1)
ENST00000318100.9:c.522+227T>C (RTEL1) ENSP00000322287.5:n.522+227T>C
ENST00000360203.11:c.1191+227T>C (RTEL1) MANE Select ENSP00000353332.5:n.1191+227T>C
ENST00000482936.6:c.1191+227T>C (RTEL1) ENSP00000457868.2:n.1191+227T>C
ENST00000318100.8:c.522+227T>C (RTEL1) ENSP00000322287.5:n.522+227T>C
ENST00000360203.9:c.1191+227T>C (RTEL1) ENSP00000353332.5:n.1191+227T>C
ENST00000370018.7:c.1191+227T>C (RTEL1) ENSP00000359035.3:n.1191+227T>C
ENST00000482936.5:c.1191+227T>C (RTEL1-TNFRSF6B) ENSP00000457868.1:n.1191+227T>C
ENST00000492259.6:c.1275+227T>C (RTEL1-TNFRSF6B) ENSP00000457428.1:n.1275+227T>C
ENST00000508582.6:c.1263+227T>C (RTEL1) ENSP00000424307.2:n.1263+227T>C
NM_001283009.1:c.1191+227T>C (RTEL1) NP_001269938.1:n.1191+227T>C
NM_001283010.1:c.522+227T>C (RTEL1) NP_001269939.1:n.522+227T>C
NM_016434.3:c.1191+227T>C (RTEL1) NP_057518.1:n.1191+227T>C
NM_032957.4:c.1263+227T>C (RTEL1) NP_116575.3:n.1263+227T>C
NR_037882.1:n.2018+227T>C (RTEL1-TNFRSF6B)
NM_001283009.2:c.1191+227T>C (RTEL1) MANE Select NP_001269938.1:n.1191+227T>C
NM_016434.4:c.1191+227T>C (RTEL1) NP_057518.1:n.1191+227T>C
NM_032957.5:c.1263+227T>C (RTEL1) NP_116575.3:n.1263+227T>C
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