Canonical Allele Identifier: CA5217178

Gene: C5

Linked Data

• dbSNP Id: rs762012629
• ExAC: 9:123725051 G / T
• MyVariant Identifiers: chr9:g.123725051G>T (hg19) ; chr9:g.120962773G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962773G>T , CM000671.2:g.120962773G>T	GRCh38
NC_000009.11:g.123725051G>T , CM000671.1:g.123725051G>T	GRCh37
NC_000009.10:g.122764872G>T	NCBI36
NG_007364.1:g.92504C>A , LRG_28:g.92504C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1436C>A
ENST00000696279.1:c.4722C>A
ENST00000696280.1:n.4491C>A
ENST00000696281.1:c.4420C>A	ENSP00000512521.1:p.Pro1474Thr
ENST00000697921.1:n.3280C>A
ENST00000697922.1:c.*4392C>A	ENSP00000513478.1:n.*4392C>A
ENST00000697923.1:n.4847C>A
ENST00000223642.3:c.4402C>A MANE Select	ENSP00000223642.1:p.Pro1468Thr
ENST00000223642.2:c.4402C>A	ENSP00000223642.1:p.Pro1468Thr
NM_001735.2:c.4402C>A , LRG_28t1:c.4402C>A	NP_001726.2:p.Pro1468Thr
XM_011518980.1:c.4417C>A	XP_011517282.1:p.Pro1473Thr
NM_001317163.1:c.4420C>A	NP_001304092.1:p.Pro1474Thr
NM_001317163.2:c.4420C>A	NP_001304092.1:p.Pro1474Thr
NM_001735.3:c.4402C>A MANE Select	NP_001726.2:p.Pro1468Thr