Canonical Allele Identifier: CA374746901
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962770A>T , CM000671.2:g.120962770A>T GRCh38
NC_000009.11:g.123725048A>T , CM000671.1:g.123725048A>T GRCh37
NC_000009.10:g.122764869A>T NCBI36
NG_007364.1:g.92507T>A , LRG_28:g.92507T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1439T>A
ENST00000696279.1:c.4725T>A
ENST00000696280.1:n.4494T>A
ENST00000696281.1:c.4423T>A ENSP00000512521.1:p.Ser1475Thr
ENST00000697921.1:n.3283T>A
ENST00000697922.1:c.*4395T>A ENSP00000513478.1:n.*4395T>A
ENST00000697923.1:n.4850T>A
ENST00000223642.3:c.4405T>A MANE Select ENSP00000223642.1:p.Ser1469Thr
ENST00000223642.2:c.4405T>A ENSP00000223642.1:p.Ser1469Thr
NM_001735.2:c.4405T>A , LRG_28t1:c.4405T>A NP_001726.2:p.Ser1469Thr
XM_011518980.1:c.4420T>A XP_011517282.1:p.Ser1474Thr
NM_001317163.1:c.4423T>A NP_001304092.1:p.Ser1475Thr
NM_001317163.2:c.4423T>A NP_001304092.1:p.Ser1475Thr
NM_001735.3:c.4405T>A MANE Select NP_001726.2:p.Ser1469Thr