Canonical Allele Identifier: CA10614537
Community Standard Title: NM_003590.5(CUL3):c.2102A>T (p.His701Leu)
Gene: CUL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.224478273T>A , CM000664.2:g.224478273T>A GRCh38
NC_000002.11:g.225342990T>A , CM000664.1:g.225342990T>A GRCh37
NC_000002.10:g.225051234T>A NCBI36
NG_032169.1:g.112125A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003590.5:c.2102A>T MANE Select NP_003581.1:p.His701Leu
ENST00000264414.9:c.2102A>T MANE Select ENSP00000264414.4:p.His701Leu
NM_001257197.1:c.1904A>T NP_001244126.1:p.His635Leu
NM_001257197.2:c.1904A>T NP_001244126.1:p.His635Leu
NM_001257198.1:c.2120A>T NP_001244127.1:p.His707Leu
NM_001257198.2:c.2120A>T NP_001244127.1:p.His707Leu
NM_003590.4:c.2102A>T NP_003581.1:p.His701Leu
ENST00000264414.8:c.2102A>T ENSP00000264414.4:p.His701Leu
ENST00000344951.8:c.1904A>T ENSP00000343601.4:p.His635Leu
ENST00000409096.5:c.2030A>T ENSP00000387200.1:p.His677Leu
ENST00000409777.5:c.2030A>T ENSP00000386525.1:p.His677Leu
ENST00000451538.1:c.203-3897A>T
ENST00000454323.1:c.148A>T ENSP00000400558.1:n.148A>T
ENST00000497715.1:n.1852A>T
ENST00000617432.4:c.824A>T ENSP00000477851.1:p.His275Leu
XM_006712800.2:c.2069A>T XP_006712863.2:p.His690Leu
XM_011511994.1:c.1955A>T XP_011510296.1:p.His652Leu
XM_011511994.3:c.1955A>T XP_011510296.1:p.His652Leu
XM_011511995.1:c.2060A>T XP_011510297.1:p.His687Leu
XM_011511996.1:c.1910A>T XP_011510298.1:p.His637Leu
XM_011511996.2:c.1910A>T XP_011510298.1:p.His637Leu
XM_011511997.1:c.1802A>T XP_011510299.1:p.His601Leu