Canonical Allele Identifier: CA374746047

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724960T>C (hg19) ; chr9:g.120962682T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962682T>C , CM000671.2:g.120962682T>C	GRCh38
NC_000009.11:g.123724960T>C , CM000671.1:g.123724960T>C	GRCh37
NC_000009.10:g.122764781T>C	NCBI36
NG_007364.1:g.92595A>G , LRG_28:g.92595A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1527A>G
ENST00000696279.1:c.4813A>G
ENST00000696280.1:n.4582A>G
ENST00000696281.1:c.4511A>G	ENSP00000512521.1:p.Tyr1504Cys
ENST00000697921.1:n.3371A>G
ENST00000697922.1:c.*4483A>G	ENSP00000513478.1:n.*4483A>G
ENST00000697923.1:n.4938A>G
ENST00000223642.3:c.4493A>G MANE Select	ENSP00000223642.1:p.Tyr1498Cys
ENST00000223642.2:c.4493A>G	ENSP00000223642.1:p.Tyr1498Cys
ENST00000480188.1:n.26A>G
NM_001735.2:c.4493A>G , LRG_28t1:c.4493A>G	NP_001726.2:p.Tyr1498Cys
XM_011518980.1:c.4508A>G	XP_011517282.1:p.Tyr1503Cys
NM_001317163.1:c.4511A>G	NP_001304092.1:p.Tyr1504Cys
NM_001317163.2:c.4511A>G	NP_001304092.1:p.Tyr1504Cys
NM_001735.3:c.4493A>G MANE Select	NP_001726.2:p.Tyr1498Cys