Canonical Allele Identifier: CA2691480445

Gene: C5

Linked Data

• gnomAD v4: 9-120962668-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962668T>A , CM000671.2:g.120962668T>A	GRCh38
NC_000009.11:g.123724946T>A , CM000671.1:g.123724946T>A	GRCh37
NC_000009.10:g.122764767T>A	NCBI36
NG_007364.1:g.92609A>T , LRG_28:g.92609A>T

Transcript Alleles

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