Canonical Allele Identifier: CA374750569

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123731343C>A (hg19) ; chr9:g.120969065C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120969065C>A , CM000671.2:g.120969065C>A	GRCh38
NC_000009.11:g.123731343C>A , CM000671.1:g.123731343C>A	GRCh37
NC_000009.10:g.122771164C>A	NCBI36
NG_007364.1:g.86212G>T , LRG_28:g.86212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1250G>T
ENST00000696279.1:c.4536G>T
ENST00000696280.1:n.4305G>T
ENST00000696281.1:c.4234G>T	ENSP00000512521.1:p.Ala1412Ser
ENST00000697921.1:n.3094G>T
ENST00000697922.1:c.*4206G>T	ENSP00000513478.1:n.*4206G>T
ENST00000697923.1:n.4661G>T
ENST00000223642.3:c.4216G>T MANE Select	ENSP00000223642.1:p.Ala1406Ser
ENST00000223642.2:c.4216G>T	ENSP00000223642.1:p.Ala1406Ser
NM_001735.2:c.4216G>T , LRG_28t1:c.4216G>T	NP_001726.2:p.Ala1406Ser
XM_011518980.1:c.4231G>T	XP_011517282.1:p.Ala1411Ser
NM_001317163.1:c.4234G>T	NP_001304092.1:p.Ala1412Ser
NM_001317163.2:c.4234G>T	NP_001304092.1:p.Ala1412Ser
NM_001735.3:c.4216G>T MANE Select	NP_001726.2:p.Ala1406Ser