Canonical Allele Identifier: CA14782133
Gene: RTEL1-TNFRSF6B HGNC NCBI
RTEL1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.63696229G>A
GRCh37 chr20:g.62327582G>A
gnomAD v2:
20:62327582 G / A
gnomAD v3:
20:63696229 G / A
gnomAD v4:
chr20-63696229-G-A
Joint Max Group AF 0.92924545 (AFR)
Genomes Max Group AF 0.92836368 (AFR)
Exomes Max Group AF 0.91797905 (AFR)
dbSNP:
2297441
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63696229G>A , CM000682.2:g.63696229G>A GRCh38
NC_000020.10:g.62327582G>A , CM000682.1:g.62327582G>A GRCh37
NC_000020.9:g.61798026G>A NCBI36
NG_033901.1:g.43420G>A
NG_046961.1:g.4579G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697815.1:n.2646+375G>A (RTEL1-TNFRSF6B)
ENST00000508582.7:c.*444G>A (RTEL1) ENSP00000424307.2:n.*444G>A
ENST00000318100.9:c.*444G>A (RTEL1) ENSP00000322287.5:n.*444G>A
ENST00000360203.11:c.*371G>A (RTEL1) MANE Select ENSP00000353332.5:n.*371G>A
ENST00000496281.2:n.4285G>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.*444G>A (RTEL1) ENSP00000322287.5:n.*444G>A
ENST00000360203.9:c.*371G>A (RTEL1) ENSP00000353332.5:n.*371G>A
ENST00000370003.2:c.*371G>A (RTEL1) ENSP00000359020.1:n.*371G>A
ENST00000370018.7:c.*444G>A (RTEL1) ENSP00000359035.3:n.*444G>A
ENST00000480273.5:n.4189G>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3899+375G>A (RTEL1-TNFRSF6B) ENSP00000457868.1:n.3899+375G>A
ENST00000492259.6:c.*1331+375G>A (RTEL1-TNFRSF6B) ENSP00000457428.1:n.*1331+375G>A
ENST00000496281.1:n.3756G>A (RTEL1-TNFRSF6B)
ENST00000496816.5:c.2206G>A (RTEL1) ENSP00000425576.1:n.2206G>A
NM_001283009.1:c.*371G>A (RTEL1) NP_001269938.1:n.*371G>A
NM_001283010.1:c.*444G>A (RTEL1) NP_001269939.1:n.*444G>A
NM_016434.3:c.*444G>A (RTEL1) NP_057518.1:n.*444G>A
NM_032957.4:c.*444G>A (RTEL1) NP_116575.3:n.*444G>A
NR_037882.1:n.4726+375G>A (RTEL1-TNFRSF6B)
NM_001283009.2:c.*371G>A (RTEL1) MANE Select NP_001269938.1:n.*371G>A
NM_016434.4:c.*444G>A (RTEL1) NP_057518.1:n.*444G>A
NM_032957.5:c.*444G>A (RTEL1) NP_116575.3:n.*444G>A
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