Canonical Allele Identifier: CA9129199
Community Standard Title: NM_000064.4(C3):c.2050G>A (p.Gly684Ser)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6707271C>T , CM000681.2:g.6707271C>T GRCh38
NC_000019.9:g.6707282C>T , CM000681.1:g.6707282C>T GRCh37
NC_000019.8:g.6658282C>T NCBI36
NG_009557.1:g.18381G>A , LRG_27:g.18381G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.2050G>A MANE Select NP_000055.2:p.Gly684Ser
ENST00000245907.11:c.2050G>A MANE Select ENSP00000245907.4:p.Gly684Ser
NM_000064.3:c.2050G>A NP_000055.2:p.Gly684Ser
ENST00000245907.10:c.2050G>A ENSP00000245907.4:p.Gly684Ser
ENST00000695651.1:n.321G>A
ENST00000695652.1:c.1927G>A ENSP00000512083.1:p.Gly643Ser
ENST00000695653.1:c.-42G>A ENSP00000512084.1:n.-42G>A
ENST00000695654.1:c.1174G>A ENSP00000512085.1:p.Gly392Ser
ENST00000695655.1:c.991G>A ENSP00000512086.1:n.991G>A
ENST00000695692.1:n.1414G>A