Canonical Allele Identifier: CA374746211
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962698A>T , CM000671.2:g.120962698A>T GRCh38
NC_000009.11:g.123724976A>T , CM000671.1:g.123724976A>T GRCh37
NC_000009.10:g.122764797A>T NCBI36
NG_007364.1:g.92579T>A , LRG_28:g.92579T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1511T>A
ENST00000696279.1:c.4797T>A
ENST00000696280.1:n.4566T>A
ENST00000696281.1:c.4495T>A ENSP00000512521.1:p.Phe1499Ile
ENST00000697921.1:n.3355T>A
ENST00000697922.1:c.*4467T>A ENSP00000513478.1:n.*4467T>A
ENST00000697923.1:n.4922T>A
ENST00000223642.3:c.4477T>A MANE Select ENSP00000223642.1:p.Phe1493Ile
ENST00000223642.2:c.4477T>A ENSP00000223642.1:p.Phe1493Ile
ENST00000480188.1:n.10T>A
NM_001735.2:c.4477T>A , LRG_28t1:c.4477T>A NP_001726.2:p.Phe1493Ile
XM_011518980.1:c.4492T>A XP_011517282.1:p.Phe1498Ile
NM_001317163.1:c.4495T>A NP_001304092.1:p.Phe1499Ile
NM_001317163.2:c.4495T>A NP_001304092.1:p.Phe1499Ile
NM_001735.3:c.4477T>A MANE Select NP_001726.2:p.Phe1493Ile