Canonical Allele Identifier: CA859578574
Gene: C5 HGNC NCBI

Linked Data

dbSNP Id: rs1297038219

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120969040C>G , CM000671.2:g.120969040C>G GRCh38
NC_000009.11:g.123731318C>G , CM000671.1:g.123731318C>G GRCh37
NC_000009.10:g.122771139C>G NCBI36
NG_007364.1:g.86237G>C , LRG_28:g.86237G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000480188.2:n.1254+21G>C
ENST00000696279.1:c.4540+21G>C
ENST00000696280.1:n.4309+21G>C
ENST00000696281.1:c.4238+21G>C ENSP00000512521.1:n.4238+21G>C
ENST00000697921.1:n.3098+21G>C
ENST00000697922.1:c.*4210+21G>C ENSP00000513478.1:n.*4210+21G>C
ENST00000697923.1:n.4665+21G>C
ENST00000223642.3:c.4220+21G>C MANE Select ENSP00000223642.1:n.4220+21G>C
ENST00000223642.2:c.4220+21G>C ENSP00000223642.1:n.4220+21G>C
NM_001735.2:c.4220+21G>C , LRG_28t1:c.4220+21G>C NP_001726.2:n.4220+21G>C
XM_011518980.1:c.4235+21G>C XP_011517282.1:n.4235+21G>C
NM_001317163.1:c.4238+21G>C NP_001304092.1:n.4238+21G>C
NM_001317163.2:c.4238+21G>C NP_001304092.1:n.4238+21G>C
NM_001735.3:c.4220+21G>C MANE Select NP_001726.2:n.4220+21G>C