Canonical Allele Identifier: CA2785814908

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962638C>T , CM000671.2:g.120962638C>T	GRCh38
NC_000009.11:g.123724916C>T , CM000671.1:g.123724916C>T	GRCh37
NC_000009.10:g.122764737C>T	NCBI36
NG_007364.1:g.92639G>A , LRG_28:g.92639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1538+33G>A
ENST00000696279.1:c.4824+33G>A
ENST00000696280.1:n.4593+33G>A
ENST00000696281.1:c.4522+33G>A	ENSP00000512521.1:n.4522+33G>A
ENST00000697921.1:n.3382+33G>A
ENST00000697922.1:c.*4494+33G>A	ENSP00000513478.1:n.*4494+33G>A
ENST00000697923.1:n.4949+33G>A
ENST00000223642.3:c.4504+33G>A MANE Select	ENSP00000223642.1:n.4504+33G>A
ENST00000223642.2:c.4504+33G>A	ENSP00000223642.1:n.4504+33G>A
ENST00000480188.1:n.37+33G>A
NM_001735.2:c.4504+33G>A , LRG_28t1:c.4504+33G>A	NP_001726.2:n.4504+33G>A
XM_011518980.1:c.4519+33G>A	XP_011517282.1:n.4519+33G>A
NM_001317163.1:c.4522+33G>A	NP_001304092.1:n.4522+33G>A
NM_001317163.2:c.4522+33G>A	NP_001304092.1:n.4522+33G>A
NM_001735.3:c.4504+33G>A MANE Select	NP_001726.2:n.4504+33G>A