Canonical Allele Identifier: CA4955322
Gene: C8orf33 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.145053409C>T , CM000670.2:g.145053409C>T GRCh38
NC_000008.10:g.146278795C>T , CM000670.1:g.146278795C>T GRCh37
NC_000008.9:g.146249599C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331434.7:c.516C>T MANE Select ENSP00000330361.6:p.Ala172=
ENST00000647640.1:c.516C>T ENSP00000497608.1:p.Ala172=
ENST00000647724.1:c.516C>T ENSP00000496962.1:p.Ala172=
ENST00000648531.1:c.516C>T ENSP00000497694.1:p.Ala172=
ENST00000648784.1:c.516C>T ENSP00000497427.1:p.Ala172=
ENST00000331434.6:c.516C>T ENSP00000330361.6:p.Ala172=
ENST00000524395.5:n.670C>T
ENST00000529593.1:n.467C>T
ENST00000530455.5:n.629C>T
ENST00000534350.5:n.544C>T
NM_023080.2:c.516C>T NP_075568.1:p.Ala172=
XM_011517229.1:c.-6525C>T XP_011515531.1:n.-6525C>T
XM_011517230.1:c.-3244C>T XP_011515532.1:n.-3244C>T
XM_024447234.1:c.-6525C>T XP_024303002.1:n.-6525C>T
NM_023080.3:c.516C>T MANE Select NP_075568.1:p.Ala172=