Canonical Allele Identifier: CA1876865885
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962900A= , CM000671.2:g.120962900A= GRCh38
NC_000009.11:g.123725178A= , CM000671.1:g.123725178A= GRCh37
NC_000009.10:g.122764999A= NCBI36
NG_007364.1:g.92377T= , LRG_28:g.92377T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1425T=
ENST00000696279.1:c.4711T=
ENST00000696280.1:n.4480T=
ENST00000696281.1:c.4409T= ENSP00000512521.1:p.Leu1470=
ENST00000697921.1:n.3269T=
ENST00000697922.1:c.*4381T= ENSP00000513478.1:n.*4381T=
ENST00000697923.1:n.4836T=
ENST00000223642.3:c.4391T= MANE Select ENSP00000223642.1:p.Leu1464=
ENST00000223642.2:c.4391T= ENSP00000223642.1:p.Leu1464=
NM_001735.2:c.4391T= , LRG_28t1:c.4391T= NP_001726.2:p.Leu1464=
XM_011518980.1:c.4406T= XP_011517282.1:p.Leu1469=
NM_001317163.1:c.4409T= NP_001304092.1:p.Leu1470=
NM_001317163.2:c.4409T= NP_001304092.1:p.Leu1470=
NM_001735.3:c.4391T= MANE Select NP_001726.2:p.Leu1464=