Canonical Allele Identifier: CA9964426

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• dbSNP Id: rs748740521
• ExAC: 20:62303966 C / T
• gnomAD v2: 20-62303966-C-T
• gnomAD v4: 20-63672613-C-T
• MyVariant Identifiers: chr20:g.62303966C>T (hg19) ; chr20:g.63672613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672613C>T , CM000682.2:g.63672613C>T	GRCh38
NC_000020.10:g.62303966C>T , CM000682.1:g.62303966C>T	GRCh37
NC_000020.9:g.61774410C>T	NCBI36
NG_033901.1:g.19804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.431C>T (RTEL1)
ENST00000425905.6:c.431C>T (RTEL1)
ENST00000508582.7:c.829C>T (RTEL1)	ENSP00000424307.2:p.His277Tyr
ENST00000684971.1:n.1188C>T (RTEL1)
ENST00000686756.1:n.1075C>T (RTEL1)
ENST00000687123.1:n.587C>T (RTEL1)
ENST00000692658.1:n.1195C>T (RTEL1)
ENST00000692911.1:n.1484C>T (RTEL1)
ENST00000318100.9:c.88C>T (RTEL1)	ENSP00000322287.5:p.His30Tyr
ENST00000360203.11:c.757C>T (RTEL1) MANE Select	ENSP00000353332.5:p.His253Tyr
ENST00000482936.6:c.757C>T (RTEL1)	ENSP00000457868.2:p.His253Tyr
ENST00000318100.8:c.88C>T (RTEL1)	ENSP00000322287.5:p.His30Tyr
ENST00000356810.5:c.907C>T (RTEL1)	ENSP00000349265.4:p.His303Tyr
ENST00000360203.9:c.757C>T (RTEL1)	ENSP00000353332.5:p.His253Tyr
ENST00000370018.7:c.757C>T (RTEL1)	ENSP00000359035.3:p.His253Tyr
ENST00000463361.1:n.454C>T (RTEL1)
ENST00000482936.5:c.757C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.His253Tyr
ENST00000492259.6:c.757C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.His253Tyr
ENST00000508582.6:c.829C>T (RTEL1)	ENSP00000424307.2:p.His277Tyr
NM_001283009.1:c.757C>T (RTEL1)	NP_001269938.1:p.His253Tyr
NM_001283010.1:c.88C>T (RTEL1)	NP_001269939.1:p.His30Tyr
NM_016434.3:c.757C>T (RTEL1)	NP_057518.1:p.His253Tyr
NM_032957.4:c.829C>T (RTEL1)	NP_116575.3:p.His277Tyr
NR_037882.1:n.1584C>T (RTEL1-TNFRSF6B)
NM_001283009.2:c.757C>T (RTEL1) MANE Select	NP_001269938.1:p.His253Tyr
NM_016434.4:c.757C>T (RTEL1)	NP_057518.1:p.His253Tyr
NM_032957.5:c.829C>T (RTEL1)	NP_116575.3:p.His277Tyr