Canonical Allele Identifier: CA374747007
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962778T>A , CM000671.2:g.120962778T>A GRCh38
NC_000009.11:g.123725056T>A , CM000671.1:g.123725056T>A GRCh37
NC_000009.10:g.122764877T>A NCBI36
NG_007364.1:g.92499A>T , LRG_28:g.92499A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1433-2A>T
ENST00000696279.1:c.4719-2A>T
ENST00000696280.1:n.4488-2A>T
ENST00000696281.1:c.4417-2A>T ENSP00000512521.1:n.4417-2A>T
ENST00000697921.1:n.3277-2A>T
ENST00000697922.1:c.*4389-2A>T ENSP00000513478.1:n.*4389-2A>T
ENST00000697923.1:n.4844-2A>T
ENST00000223642.3:c.4399-2A>T MANE Select ENSP00000223642.1:n.4399-2A>T
ENST00000223642.2:c.4399-2A>T ENSP00000223642.1:n.4399-2A>T
NM_001735.2:c.4399-2A>T , LRG_28t1:c.4399-2A>T NP_001726.2:n.4399-2A>T
XM_011518980.1:c.4414-2A>T XP_011517282.1:n.4414-2A>T
NM_001317163.1:c.4417-2A>T NP_001304092.1:n.4417-2A>T
NM_001317163.2:c.4417-2A>T NP_001304092.1:n.4417-2A>T
NM_001735.3:c.4399-2A>T MANE Select NP_001726.2:n.4399-2A>T