Canonical Allele Identifier: CA5218072

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121020021G>A , CM000671.2:g.121020021G>A	GRCh38
NC_000009.11:g.123782299G>A , CM000671.1:g.123782299G>A	GRCh37
NC_000009.10:g.122822120G>A	NCBI36
NG_007364.1:g.35256C>T , LRG_28:g.35256C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466280.2:c.456C>T	ENSP00000513491.1:p.Thr152=
ENST00000696279.1:c.1781C>T
ENST00000696280.1:n.1550C>T
ENST00000696281.1:c.1479C>T	ENSP00000512521.1:p.Thr493=
ENST00000697922.1:c.*1451C>T	ENSP00000513478.1:n.*1451C>T
ENST00000697923.1:n.2066C>T
ENST00000223642.3:c.1461C>T MANE Select	ENSP00000223642.1:p.Thr487=
ENST00000223642.2:c.1461C>T	ENSP00000223642.1:p.Thr487=
NM_001735.2:c.1461C>T , LRG_28t1:c.1461C>T	NP_001726.2:p.Thr487=
XM_011518980.1:c.1476C>T	XP_011517282.1:p.Thr492=
XM_011518981.1:c.1479C>T	XP_011517283.1:p.Thr493=
NM_001317163.1:c.1479C>T	NP_001304092.1:p.Thr493=
NM_001317164.1:c.1461C>T	NP_001304093.1:p.Thr487=
NM_001317163.2:c.1479C>T	NP_001304092.1:p.Thr493=
NM_001317164.2:c.1461C>T	NP_001304093.1:p.Thr487=
NM_001735.3:c.1461C>T MANE Select	NP_001726.2:p.Thr487=