Canonical Allele Identifier: CA374750590
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120969070G>T , CM000671.2:g.120969070G>T GRCh38
NC_000009.11:g.123731348G>T , CM000671.1:g.123731348G>T GRCh37
NC_000009.10:g.122771169G>T NCBI36
NG_007364.1:g.86207C>A , LRG_28:g.86207C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1245C>A
ENST00000696279.1:c.4531C>A
ENST00000696280.1:n.4300C>A
ENST00000696281.1:c.4229C>A ENSP00000512521.1:p.Ala1410Glu
ENST00000697921.1:n.3089C>A
ENST00000697922.1:c.*4201C>A ENSP00000513478.1:n.*4201C>A
ENST00000697923.1:n.4656C>A
ENST00000223642.3:c.4211C>A MANE Select ENSP00000223642.1:p.Ala1404Glu
ENST00000223642.2:c.4211C>A ENSP00000223642.1:p.Ala1404Glu
NM_001735.2:c.4211C>A , LRG_28t1:c.4211C>A NP_001726.2:p.Ala1404Glu
XM_011518980.1:c.4226C>A XP_011517282.1:p.Ala1409Glu
NM_001317163.1:c.4229C>A NP_001304092.1:p.Ala1410Glu
NM_001317163.2:c.4229C>A NP_001304092.1:p.Ala1410Glu
NM_001735.3:c.4211C>A MANE Select NP_001726.2:p.Ala1404Glu