Canonical Allele Identifier: CA374747404
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962919C>T , CM000671.2:g.120962919C>T GRCh38
NC_000009.11:g.123725197C>T , CM000671.1:g.123725197C>T GRCh37
NC_000009.10:g.122765018C>T NCBI36
NG_007364.1:g.92358G>A , LRG_28:g.92358G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1406G>A
ENST00000696279.1:c.4692G>A
ENST00000696280.1:n.4461G>A
ENST00000696281.1:c.4390G>A ENSP00000512521.1:p.Gly1464Arg
ENST00000697921.1:n.3250G>A
ENST00000697922.1:c.*4362G>A ENSP00000513478.1:n.*4362G>A
ENST00000697923.1:n.4817G>A
ENST00000223642.3:c.4372G>A MANE Select ENSP00000223642.1:p.Gly1458Arg
ENST00000223642.2:c.4372G>A ENSP00000223642.1:p.Gly1458Arg
NM_001735.2:c.4372G>A , LRG_28t1:c.4372G>A NP_001726.2:p.Gly1458Arg
XM_011518980.1:c.4387G>A XP_011517282.1:p.Gly1463Arg
NM_001317163.1:c.4390G>A NP_001304092.1:p.Gly1464Arg
NM_001317163.2:c.4390G>A NP_001304092.1:p.Gly1464Arg
NM_001735.3:c.4372G>A MANE Select NP_001726.2:p.Gly1458Arg