Canonical Allele Identifier: CA374745989
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962676C>T , CM000671.2:g.120962676C>T GRCh38
NC_000009.11:g.123724954C>T , CM000671.1:g.123724954C>T GRCh37
NC_000009.10:g.122764775C>T NCBI36
NG_007364.1:g.92601G>A , LRG_28:g.92601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1533G>A
ENST00000696279.1:c.4819G>A
ENST00000696280.1:n.4588G>A
ENST00000696281.1:c.4517G>A ENSP00000512521.1:p.Arg1506Lys
ENST00000697921.1:n.3377G>A
ENST00000697922.1:c.*4489G>A ENSP00000513478.1:n.*4489G>A
ENST00000697923.1:n.4944G>A
ENST00000223642.3:c.4499G>A MANE Select ENSP00000223642.1:p.Arg1500Lys
ENST00000223642.2:c.4499G>A ENSP00000223642.1:p.Arg1500Lys
ENST00000480188.1:n.32G>A
NM_001735.2:c.4499G>A , LRG_28t1:c.4499G>A NP_001726.2:p.Arg1500Lys
XM_011518980.1:c.4514G>A XP_011517282.1:p.Arg1505Lys
NM_001317163.1:c.4517G>A NP_001304092.1:p.Arg1506Lys
NM_001317163.2:c.4517G>A NP_001304092.1:p.Arg1506Lys
NM_001735.3:c.4499G>A MANE Select NP_001726.2:p.Arg1500Lys