Canonical Allele Identifier: CA153051756
Gene: RADIL HGNC NCBI

Linked Data

dbSNP Id: rs2306921
gnomAD v4: 7-4799634-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.4799634G>A , CM000669.2:g.4799634G>A GRCh38
NC_000007.13:g.4839265G>A , CM000669.1:g.4839265G>A GRCh37
NC_000007.12:g.4805791G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000399583.4:c.3118C>T MANE Select ENSP00000382492.3:p.Leu1040=
ENST00000399583.3:c.3118C>T ENSP00000382492.3:p.Leu1040=
ENST00000445392.5:c.*1889C>T ENSP00000413403.1:n.*1889C>T
ENST00000472999.5:n.1142C>T
ENST00000473130.5:n.1729C>T
NM_018059.4:c.3118C>T NP_060529.4:p.Leu1040=
NM_018059.5:c.3118C>T MANE Select NP_060529.4:p.Leu1040=