Canonical Allele Identifier: CA9964954
Community Standard Title: NM_001283009.2(RTEL1):c.1723-13C>T
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63688515C>T , CM000682.2:g.63688515C>T GRCh38
NC_000020.10:g.62319868C>T , CM000682.1:g.62319868C>T GRCh37
NC_000020.9:g.61790312C>T NCBI36
NG_033901.1:g.35706C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.1723-13C>T (RTEL1) MANE Select NP_001269938.1:n.1723-13C>T
ENST00000360203.11:c.1723-13C>T (RTEL1) MANE Select ENSP00000353332.5:n.1723-13C>T
NM_001283009.1:c.1723-13C>T (RTEL1) NP_001269938.1:n.1723-13C>T
NM_001283010.1:c.1054-13C>T (RTEL1) NP_001269939.1:n.1054-13C>T
NM_016434.3:c.1723-13C>T (RTEL1) NP_057518.1:n.1723-13C>T
NM_016434.4:c.1723-13C>T (RTEL1) NP_057518.1:n.1723-13C>T
NM_032957.4:c.1795-13C>T (RTEL1) NP_116575.3:n.1795-13C>T
NM_032957.5:c.1795-13C>T (RTEL1) NP_116575.3:n.1795-13C>T
NR_037882.1:n.2550-13C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1054-13C>T (RTEL1) ENSP00000322287.5:n.1054-13C>T
ENST00000318100.9:c.1054-13C>T (RTEL1) ENSP00000322287.5:n.1054-13C>T
ENST00000360203.9:c.1723-13C>T (RTEL1) ENSP00000353332.5:n.1723-13C>T
ENST00000370018.7:c.1723-13C>T (RTEL1) ENSP00000359035.3:n.1723-13C>T
ENST00000425905.5:c.49-13C>T (RTEL1) ENSP00000388063.1:n.49-13C>T
ENST00000425905.6:c.1397-13C>T (RTEL1)
ENST00000425905.7:n.1397-13C>T (RTEL1)
ENST00000480273.5:n.1808-13C>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.1723-13C>T (RTEL1-TNFRSF6B) ENSP00000457868.1:n.1723-13C>T
ENST00000482936.6:c.1723-13C>T (RTEL1) ENSP00000457868.2:n.1723-13C>T
ENST00000492259.6:c.1807-13C>T (RTEL1-TNFRSF6B) ENSP00000457428.1:n.1807-13C>T
ENST00000496281.2:n.97-13C>T (RTEL1-TNFRSF6B)
ENST00000508582.6:c.1795-13C>T (RTEL1) ENSP00000424307.2:n.1795-13C>T
ENST00000508582.7:c.1795-13C>T (RTEL1) ENSP00000424307.2:n.1795-13C>T
ENST00000687123.1:n.1553-13C>T (RTEL1)