Canonical Allele Identifier: CA2140260
Community Standard Title: NM_003590.5(CUL3):c.137G>A (p.Arg46His)
Gene: CUL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.224557786C>T , CM000664.2:g.224557786C>T GRCh38
NC_000002.11:g.225422503C>T , CM000664.1:g.225422503C>T GRCh37
NC_000002.10:g.225130747C>T NCBI36
NG_032169.1:g.32612G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003590.5:c.137G>A MANE Select NP_003581.1:p.Arg46His
ENST00000264414.9:c.137G>A MANE Select ENSP00000264414.4:p.Arg46His
NM_001257197.1:c.67-22145G>A NP_001244126.1:n.67-22145G>A
NM_001257197.2:c.67-22145G>A NP_001244126.1:n.67-22145G>A
NM_001257198.1:c.155G>A NP_001244127.1:p.Arg52His
NM_001257198.2:c.155G>A NP_001244127.1:p.Arg52His
NM_003590.4:c.137G>A NP_003581.1:p.Arg46His
ENST00000264414.8:c.137G>A ENSP00000264414.4:p.Arg46His
ENST00000344951.8:c.67-22145G>A ENSP00000343601.4:n.67-22145G>A
ENST00000409096.5:c.65G>A ENSP00000387200.1:p.Arg22His
ENST00000409777.5:c.65G>A ENSP00000386525.1:p.Arg22His
ENST00000432260.2:c.35G>A ENSP00000484410.1:p.Arg12His
ENST00000436172.1:c.198G>A
ENST00000546102.1:n.300G>A
XM_006712800.2:c.104G>A XP_006712863.2:p.Arg35His
XM_011511994.1:c.104G>A XP_011510296.1:p.Arg35His
XM_011511994.3:c.104G>A XP_011510296.1:p.Arg35His
XM_011511995.1:c.95G>A XP_011510297.1:p.Arg32His
XM_011511996.1:c.-182G>A XP_011510298.1:n.-182G>A
XM_011511996.2:c.-182G>A XP_011510298.1:n.-182G>A