Canonical Allele Identifier: CA4955361
Gene: C8orf33 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.145054093C>G , CM000670.2:g.145054093C>G GRCh38
NC_000008.10:g.146279479C>G , CM000670.1:g.146279479C>G GRCh37
NC_000008.9:g.146250283C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331434.7:c.626C>G MANE Select ENSP00000330361.6:p.Ser209Cys
ENST00000647640.1:c.626C>G ENSP00000497608.1:p.Ser209Cys
ENST00000647724.1:c.626C>G ENSP00000496962.1:p.Ser209Cys
ENST00000648531.1:c.626C>G ENSP00000497694.1:p.Ser209Cys
ENST00000648784.1:c.626C>G ENSP00000497427.1:p.Ser209Cys
ENST00000331434.6:c.626C>G ENSP00000330361.6:p.Ser209Cys
ENST00000524395.5:n.780C>G
ENST00000530455.5:n.739C>G
ENST00000534350.5:n.1228C>G
NM_023080.2:c.626C>G NP_075568.1:p.Ser209Cys
XM_011517229.1:c.-6415C>G XP_011515531.1:n.-6415C>G
XM_011517230.1:c.-3134C>G XP_011515532.1:n.-3134C>G
XM_024447234.1:c.-6415C>G XP_024303002.1:n.-6415C>G
NM_023080.3:c.626C>G MANE Select NP_075568.1:p.Ser209Cys