Canonical Allele Identifier: CA2538088763

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962581T>A , CM000671.2:g.120962581T>A	GRCh38
NC_000009.11:g.123724859T>A , CM000671.1:g.123724859T>A	GRCh37
NC_000009.10:g.122764680T>A	NCBI36
NG_007364.1:g.92696A>T , LRG_28:g.92696A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1538+90A>T
ENST00000696279.1:c.4824+90A>T
ENST00000696280.1:n.4593+90A>T
ENST00000696281.1:c.4522+90A>T	ENSP00000512521.1:n.4522+90A>T
ENST00000697921.1:n.3382+90A>T
ENST00000697922.1:c.*4494+90A>T	ENSP00000513478.1:n.*4494+90A>T
ENST00000697923.1:n.4949+90A>T
ENST00000223642.3:c.4504+90A>T MANE Select	ENSP00000223642.1:n.4504+90A>T
ENST00000223642.2:c.4504+90A>T	ENSP00000223642.1:n.4504+90A>T
ENST00000480188.1:n.37+90A>T
NM_001735.2:c.4504+90A>T , LRG_28t1:c.4504+90A>T	NP_001726.2:n.4504+90A>T
XM_011518980.1:c.4519+90A>T	XP_011517282.1:n.4519+90A>T
NM_001317163.1:c.4522+90A>T	NP_001304092.1:n.4522+90A>T
NM_001317163.2:c.4522+90A>T	NP_001304092.1:n.4522+90A>T
NM_001735.3:c.4504+90A>T MANE Select	NP_001726.2:n.4504+90A>T