Canonical Allele Identifier: CA9966289
Community Standard Title: NM_003823.4(TNFRSF6B):c.42G>A (p.Leu14=)
Gene: RTEL1-TNFRSF6B HGNC NCBI
TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63696809G>A , CM000682.2:g.63696809G>A GRCh38
NC_000020.10:g.62328162G>A , CM000682.1:g.62328162G>A GRCh37
NC_000020.9:g.61798606G>A NCBI36
NG_033901.1:g.44000G>A
NG_046961.1:g.5159G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003823.4:c.42G>A (TNFRSF6B) MANE Select NP_003814.1:p.Leu14=
ENST00000369996.3:c.42G>A (TNFRSF6B) MANE Select ENSP00000359013.1:p.Leu14=
NM_003823.3:c.42G>A (TNFRSF6B) NP_003814.1:p.Leu14=
NR_037882.1:n.4776G>A (RTEL1-TNFRSF6B)
ENST00000369996.1:c.42G>A (TNFRSF6B) ENSP00000359013.1:p.Leu14=
ENST00000480273.5:n.4769G>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3949G>A (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Gly1317Ser
ENST00000492259.6:c.*1381G>A (RTEL1-TNFRSF6B) ENSP00000457428.1:n.*1381G>A
ENST00000496281.1:n.4336G>A (RTEL1-TNFRSF6B)
ENST00000496281.2:n.4865G>A (RTEL1-TNFRSF6B)
ENST00000697815.1:n.2696G>A (RTEL1-TNFRSF6B)