Canonical Allele Identifier: CA374746392
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962716A>C , CM000671.2:g.120962716A>C GRCh38
NC_000009.11:g.123724994A>C , CM000671.1:g.123724994A>C GRCh37
NC_000009.10:g.122764815A>C NCBI36
NG_007364.1:g.92561T>G , LRG_28:g.92561T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1493T>G
ENST00000696279.1:c.4779T>G
ENST00000696280.1:n.4548T>G
ENST00000696281.1:c.4477T>G ENSP00000512521.1:p.Phe1493Val
ENST00000697921.1:n.3337T>G
ENST00000697922.1:c.*4449T>G ENSP00000513478.1:n.*4449T>G
ENST00000697923.1:n.4904T>G
ENST00000223642.3:c.4459T>G MANE Select ENSP00000223642.1:p.Phe1487Val
ENST00000223642.2:c.4459T>G ENSP00000223642.1:p.Phe1487Val
NM_001735.2:c.4459T>G , LRG_28t1:c.4459T>G NP_001726.2:p.Phe1487Val
XM_011518980.1:c.4474T>G XP_011517282.1:p.Phe1492Val
NM_001317163.1:c.4477T>G NP_001304092.1:p.Phe1493Val
NM_001317163.2:c.4477T>G NP_001304092.1:p.Phe1493Val
NM_001735.3:c.4459T>G MANE Select NP_001726.2:p.Phe1487Val