Canonical Allele Identifier: CA1876870718
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120974780T= , CM000671.2:g.120974780T= GRCh38
NC_000009.11:g.123737058T= , CM000671.1:g.123737058T= GRCh37
NC_000009.10:g.122776879T= NCBI36
NG_007364.1:g.80497A= , LRG_28:g.80497A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.927A=
ENST00000696279.1:c.4336A=
ENST00000696280.1:n.4105A=
ENST00000696281.1:c.4034A= ENSP00000512521.1:p.Glu1345=
ENST00000697921.1:n.2894A=
ENST00000697922.1:c.*4006A= ENSP00000513478.1:n.*4006A=
ENST00000697923.1:n.4461A=
ENST00000223642.3:c.4016A= MANE Select ENSP00000223642.1:p.Glu1339=
ENST00000223642.2:c.4016A= ENSP00000223642.1:p.Glu1339=
NM_001735.2:c.4016A= , LRG_28t1:c.4016A= NP_001726.2:p.Glu1339=
XM_011518980.1:c.4031A= XP_011517282.1:p.Glu1344=
NM_001317163.1:c.4034A= NP_001304092.1:p.Glu1345=
NM_001317163.2:c.4034A= NP_001304092.1:p.Glu1345=
NM_001735.3:c.4016A= MANE Select NP_001726.2:p.Glu1339=