Canonical Allele Identifier: CA466940905
Gene: C5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123725025T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962747T>A , CM000671.2:g.120962747T>A GRCh38
NC_000009.11:g.123725025T>A , CM000671.1:g.123725025T>A GRCh37
NC_000009.10:g.122764846T>A NCBI36
NG_007364.1:g.92530A>T , LRG_28:g.92530A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1462A>T
ENST00000696279.1:c.4748A>T
ENST00000696280.1:n.4517A>T
ENST00000696281.1:c.4446A>T ENSP00000512521.1:p.Arg1482=
ENST00000697921.1:n.3306A>T
ENST00000697922.1:c.*4418A>T ENSP00000513478.1:n.*4418A>T
ENST00000697923.1:n.4873A>T
ENST00000223642.3:c.4428A>T MANE Select ENSP00000223642.1:p.Arg1476=
ENST00000223642.2:c.4428A>T ENSP00000223642.1:p.Arg1476=
NM_001735.2:c.4428A>T , LRG_28t1:c.4428A>T NP_001726.2:p.Arg1476=
XM_011518980.1:c.4443A>T XP_011517282.1:p.Arg1481=
NM_001317163.1:c.4446A>T NP_001304092.1:p.Arg1482=
NM_001317163.2:c.4446A>T NP_001304092.1:p.Arg1482=
NM_001735.3:c.4428A>T MANE Select NP_001726.2:p.Arg1476=