Canonical Allele Identifier: CA374747817

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725232A>T (hg19) ; chr9:g.120962954A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962954A>T , CM000671.2:g.120962954A>T	GRCh38
NC_000009.11:g.123725232A>T , CM000671.1:g.123725232A>T	GRCh37
NC_000009.10:g.122765053A>T	NCBI36
NG_007364.1:g.92323T>A , LRG_28:g.92323T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1371T>A
ENST00000696279.1:c.4657T>A
ENST00000696280.1:n.4426T>A
ENST00000696281.1:c.4355T>A	ENSP00000512521.1:p.Val1452Glu
ENST00000697921.1:n.3215T>A
ENST00000697922.1:c.*4327T>A	ENSP00000513478.1:n.*4327T>A
ENST00000697923.1:n.4782T>A
ENST00000223642.3:c.4337T>A MANE Select	ENSP00000223642.1:p.Val1446Glu
ENST00000223642.2:c.4337T>A	ENSP00000223642.1:p.Val1446Glu
NM_001735.2:c.4337T>A , LRG_28t1:c.4337T>A	NP_001726.2:p.Val1446Glu
XM_011518980.1:c.4352T>A	XP_011517282.1:p.Val1451Glu
NM_001317163.1:c.4355T>A	NP_001304092.1:p.Val1452Glu
NM_001317163.2:c.4355T>A	NP_001304092.1:p.Val1452Glu
NM_001735.3:c.4337T>A MANE Select	NP_001726.2:p.Val1446Glu