Canonical Allele Identifier: CA466940722

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724950T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962672T>A , CM000671.2:g.120962672T>A	GRCh38
NC_000009.11:g.123724950T>A , CM000671.1:g.123724950T>A	GRCh37
NC_000009.10:g.122764771T>A	NCBI36
NG_007364.1:g.92605A>T , LRG_28:g.92605A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1537A>T
ENST00000696279.1:c.4823A>T
ENST00000696280.1:n.4592A>T
ENST00000696281.1:c.4521A>T	ENSP00000512521.1:p.Pro1507=
ENST00000697921.1:n.3381A>T
ENST00000697922.1:c.*4493A>T	ENSP00000513478.1:n.*4493A>T
ENST00000697923.1:n.4948A>T
ENST00000223642.3:c.4503A>T MANE Select	ENSP00000223642.1:p.Pro1501=
ENST00000223642.2:c.4503A>T	ENSP00000223642.1:p.Pro1501=
ENST00000480188.1:n.36A>T
NM_001735.2:c.4503A>T , LRG_28t1:c.4503A>T	NP_001726.2:p.Pro1501=
XM_011518980.1:c.4518A>T	XP_011517282.1:p.Pro1506=
NM_001317163.1:c.4521A>T	NP_001304092.1:p.Pro1507=
NM_001317163.2:c.4521A>T	NP_001304092.1:p.Pro1507=
NM_001735.3:c.4503A>T MANE Select	NP_001726.2:p.Pro1501=