Canonical Allele Identifier: CA1876865911

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962965A= , CM000671.2:g.120962965A=	GRCh38
NC_000009.11:g.123725243A= , CM000671.1:g.123725243A=	GRCh37
NC_000009.10:g.122765064A=	NCBI36
NG_007364.1:g.92312T= , LRG_28:g.92312T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1360T=
ENST00000696279.1:c.4646T=
ENST00000696280.1:n.4415T=
ENST00000696281.1:c.4344T=	ENSP00000512521.1:p.Leu1448=
ENST00000697921.1:n.3204T=
ENST00000697922.1:c.*4316T=	ENSP00000513478.1:n.*4316T=
ENST00000697923.1:n.4771T=
ENST00000223642.3:c.4326T= MANE Select	ENSP00000223642.1:p.Leu1442=
ENST00000223642.2:c.4326T=	ENSP00000223642.1:p.Leu1442=
NM_001735.2:c.4326T= , LRG_28t1:c.4326T=	NP_001726.2:p.Leu1442=
XM_011518980.1:c.4341T=	XP_011517282.1:p.Leu1447=
NM_001317163.1:c.4344T=	NP_001304092.1:p.Leu1448=
NM_001317163.2:c.4344T=	NP_001304092.1:p.Leu1448=
NM_001735.3:c.4326T= MANE Select	NP_001726.2:p.Leu1442=