Canonical Allele Identifier: CA5217290

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120970205C>T , CM000671.2:g.120970205C>T	GRCh38
NC_000009.11:g.123732483C>T , CM000671.1:g.123732483C>T	GRCh37
NC_000009.10:g.122772304C>T	NCBI36
NG_007364.1:g.85072G>A , LRG_28:g.85072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1161G>A
ENST00000696279.1:c.4447G>A
ENST00000696280.1:n.4216G>A
ENST00000696281.1:c.4145G>A	ENSP00000512521.1:p.Ser1382Asn
ENST00000697921.1:n.3005G>A
ENST00000697922.1:c.*4117G>A	ENSP00000513478.1:n.*4117G>A
ENST00000697923.1:n.4572G>A
ENST00000223642.3:c.4127G>A MANE Select	ENSP00000223642.1:p.Ser1376Asn
ENST00000223642.2:c.4127G>A	ENSP00000223642.1:p.Ser1376Asn
NM_001735.2:c.4127G>A , LRG_28t1:c.4127G>A	NP_001726.2:p.Ser1376Asn
XM_011518980.1:c.4142G>A	XP_011517282.1:p.Ser1381Asn
NM_001317163.1:c.4145G>A	NP_001304092.1:p.Ser1382Asn
NM_001317163.2:c.4145G>A	NP_001304092.1:p.Ser1382Asn
NM_001735.3:c.4127G>A MANE Select	NP_001726.2:p.Ser1376Asn