Canonical Allele Identifier: CA374746438

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724999A>T (hg19) ; chr9:g.120962721A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962721A>T , CM000671.2:g.120962721A>T	GRCh38
NC_000009.11:g.123724999A>T , CM000671.1:g.123724999A>T	GRCh37
NC_000009.10:g.122764820A>T	NCBI36
NG_007364.1:g.92556T>A , LRG_28:g.92556T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1488T>A
ENST00000696279.1:c.4774T>A
ENST00000696280.1:n.4543T>A
ENST00000696281.1:c.4472T>A	ENSP00000512521.1:p.Val1491Asp
ENST00000697921.1:n.3332T>A
ENST00000697922.1:c.*4444T>A	ENSP00000513478.1:n.*4444T>A
ENST00000697923.1:n.4899T>A
ENST00000223642.3:c.4454T>A MANE Select	ENSP00000223642.1:p.Val1485Asp
ENST00000223642.2:c.4454T>A	ENSP00000223642.1:p.Val1485Asp
NM_001735.2:c.4454T>A , LRG_28t1:c.4454T>A	NP_001726.2:p.Val1485Asp
XM_011518980.1:c.4469T>A	XP_011517282.1:p.Val1490Asp
NM_001317163.1:c.4472T>A	NP_001304092.1:p.Val1491Asp
NM_001317163.2:c.4472T>A	NP_001304092.1:p.Val1491Asp
NM_001735.3:c.4454T>A MANE Select	NP_001726.2:p.Val1485Asp