Canonical Allele Identifier: CA2579437589

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120963000T>A , CM000671.2:g.120963000T>A	GRCh38
NC_000009.11:g.123725278T>A , CM000671.1:g.123725278T>A	GRCh37
NC_000009.10:g.122765099T>A	NCBI36
NG_007364.1:g.92277A>T , LRG_28:g.92277A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1358-33A>T
ENST00000696279.1:c.4644-33A>T
ENST00000696280.1:n.4413-33A>T
ENST00000696281.1:c.4342-33A>T	ENSP00000512521.1:n.4342-33A>T
ENST00000697921.1:n.3202-33A>T
ENST00000697922.1:c.*4314-33A>T	ENSP00000513478.1:n.*4314-33A>T
ENST00000697923.1:n.4769-33A>T
ENST00000223642.3:c.4324-33A>T MANE Select	ENSP00000223642.1:n.4324-33A>T
ENST00000223642.2:c.4324-33A>T	ENSP00000223642.1:n.4324-33A>T
NM_001735.2:c.4324-33A>T , LRG_28t1:c.4324-33A>T	NP_001726.2:n.4324-33A>T
XM_011518980.1:c.4339-33A>T	XP_011517282.1:n.4339-33A>T
NM_001317163.1:c.4342-33A>T	NP_001304092.1:n.4342-33A>T
NM_001317163.2:c.4342-33A>T	NP_001304092.1:n.4342-33A>T
NM_001735.3:c.4324-33A>T MANE Select	NP_001726.2:n.4324-33A>T