Canonical Allele Identifier: CA466940912

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962749G>T , CM000671.2:g.120962749G>T	GRCh38
NC_000009.11:g.123725027G>T , CM000671.1:g.123725027G>T	GRCh37
NC_000009.10:g.122764848G>T	NCBI36
NG_007364.1:g.92528C>A , LRG_28:g.92528C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001735.3:c.4426C>A MANE Select	NP_001726.2:p.Arg1476=
ENST00000223642.3:c.4426C>A MANE Select	ENSP00000223642.1:p.Arg1476=
NM_001317163.1:c.4444C>A	NP_001304092.1:p.Arg1482=
NM_001317163.2:c.4444C>A	NP_001304092.1:p.Arg1482=
NM_001735.2:c.4426C>A , LRG_28t1:c.4426C>A	NP_001726.2:p.Arg1476=
ENST00000223642.2:c.4426C>A	ENSP00000223642.1:p.Arg1476=
ENST00000480188.2:n.1460C>A
ENST00000696279.1:c.4746C>A
ENST00000696280.1:n.4515C>A
ENST00000696281.1:c.4444C>A	ENSP00000512521.1:p.Arg1482=
ENST00000697921.1:n.3304C>A
ENST00000697922.1:c.*4416C>A	ENSP00000513478.1:n.*4416C>A
ENST00000697923.1:n.4871C>A
XM_011518980.1:c.4441C>A	XP_011517282.1:p.Arg1481=