Canonical Allele Identifier: CA1876865910
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962964C= , CM000671.2:g.120962964C= GRCh38
NC_000009.11:g.123725242C= , CM000671.1:g.123725242C= GRCh37
NC_000009.10:g.122765063C= NCBI36
NG_007364.1:g.92313G= , LRG_28:g.92313G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1361G=
ENST00000696279.1:c.4647G=
ENST00000696280.1:n.4416G=
ENST00000696281.1:c.4345G= ENSP00000512521.1:p.Val1449=
ENST00000697921.1:n.3205G=
ENST00000697922.1:c.*4317G= ENSP00000513478.1:n.*4317G=
ENST00000697923.1:n.4772G=
ENST00000223642.3:c.4327G= MANE Select ENSP00000223642.1:p.Val1443=
ENST00000223642.2:c.4327G= ENSP00000223642.1:p.Val1443=
NM_001735.2:c.4327G= , LRG_28t1:c.4327G= NP_001726.2:p.Val1443=
XM_011518980.1:c.4342G= XP_011517282.1:p.Val1448=
NM_001317163.1:c.4345G= NP_001304092.1:p.Val1449=
NM_001317163.2:c.4345G= NP_001304092.1:p.Val1449=
NM_001735.3:c.4327G= MANE Select NP_001726.2:p.Val1443=