Canonical Allele Identifier: CA2691480748
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120968975C>A , CM000671.2:g.120968975C>A GRCh38
NC_000009.11:g.123731253C>A , CM000671.1:g.123731253C>A GRCh37
NC_000009.10:g.122771074C>A NCBI36
NG_007364.1:g.86302G>T , LRG_28:g.86302G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1254+86G>T
ENST00000696279.1:c.4540+86G>T
ENST00000696280.1:n.4309+86G>T
ENST00000696281.1:c.4238+86G>T ENSP00000512521.1:n.4238+86G>T
ENST00000697921.1:n.3098+86G>T
ENST00000697922.1:c.*4210+86G>T ENSP00000513478.1:n.*4210+86G>T
ENST00000697923.1:n.4665+86G>T
ENST00000223642.3:c.4220+86G>T MANE Select ENSP00000223642.1:n.4220+86G>T
ENST00000223642.2:c.4220+86G>T ENSP00000223642.1:n.4220+86G>T
NM_001735.2:c.4220+86G>T , LRG_28t1:c.4220+86G>T NP_001726.2:n.4220+86G>T
XM_011518980.1:c.4235+86G>T XP_011517282.1:n.4235+86G>T
NM_001317163.1:c.4238+86G>T NP_001304092.1:n.4238+86G>T
NM_001317163.2:c.4238+86G>T NP_001304092.1:n.4238+86G>T
NM_001735.3:c.4220+86G>T MANE Select NP_001726.2:n.4220+86G>T