Canonical Allele Identifier: CA5217698

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120997684G>T , CM000671.2:g.120997684G>T	GRCh38
NC_000009.11:g.123759962G>T , CM000671.1:g.123759962G>T	GRCh37
NC_000009.10:g.122799783G>T	NCBI36
NG_007364.1:g.57593C>A , LRG_28:g.57593C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001735.3:c.2653C>A MANE Select	NP_001726.2:p.Arg885Ser
ENST00000223642.3:c.2653C>A MANE Select	ENSP00000223642.1:p.Arg885Ser
NM_001317163.1:c.2671C>A	NP_001304092.1:p.Arg891Ser
NM_001317163.2:c.2671C>A	NP_001304092.1:p.Arg891Ser
NM_001735.2:c.2653C>A , LRG_28t1:c.2653C>A	NP_001726.2:p.Arg885Ser
ENST00000223642.2:c.2653C>A	ENSP00000223642.1:p.Arg885Ser
ENST00000696279.1:c.2973C>A
ENST00000696280.1:n.2742C>A
ENST00000696281.1:c.2671C>A	ENSP00000512521.1:p.Arg891Ser
ENST00000697921.1:n.1531C>A
ENST00000697922.1:c.*2643C>A	ENSP00000513478.1:n.*2643C>A
ENST00000697923.1:n.3258C>A
XM_011518980.1:c.2668C>A	XP_011517282.1:p.Arg890Ser
XM_011518981.1:c.2671C>A	XP_011517283.1:p.Arg891Ser