Canonical Allele Identifier: CA1876870717
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120974779C= , CM000671.2:g.120974779C= GRCh38
NC_000009.11:g.123737057C= , CM000671.1:g.123737057C= GRCh37
NC_000009.10:g.122776878C= NCBI36
NG_007364.1:g.80498G= , LRG_28:g.80498G=

Transcript Alleles

HGVS Amino-acid change
ENST00000480188.2:n.928G=
ENST00000696279.1:c.4337G=
ENST00000696280.1:n.4106G=
ENST00000696281.1:c.4035G= ENSP00000512521.1:p.Glu1345=
ENST00000697921.1:n.2895G=
ENST00000697922.1:c.*4007G= ENSP00000513478.1:n.*4007G=
ENST00000697923.1:n.4462G=
ENST00000223642.3:c.4017G= MANE Select ENSP00000223642.1:p.Glu1339=
ENST00000223642.2:c.4017G= ENSP00000223642.1:p.Glu1339=
NM_001735.2:c.4017G= , LRG_28t1:c.4017G= NP_001726.2:p.Glu1339=
XM_011518980.1:c.4032G= XP_011517282.1:p.Glu1344=
NM_001317163.1:c.4035G= NP_001304092.1:p.Glu1345=
NM_001317163.2:c.4035G= NP_001304092.1:p.Glu1345=
NM_001735.3:c.4017G= MANE Select NP_001726.2:p.Glu1339=