Canonical Allele Identifier: CA374746143

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724967A>G (hg19) ; chr9:g.120962689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962689A>G , CM000671.2:g.120962689A>G	GRCh38
NC_000009.11:g.123724967A>G , CM000671.1:g.123724967A>G	GRCh37
NC_000009.10:g.122764788A>G	NCBI36
NG_007364.1:g.92588T>C , LRG_28:g.92588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1520T>C
ENST00000696279.1:c.4806T>C
ENST00000696280.1:n.4575T>C
ENST00000696281.1:c.4504T>C	ENSP00000512521.1:p.Tyr1502His
ENST00000697921.1:n.3364T>C
ENST00000697922.1:c.*4476T>C	ENSP00000513478.1:n.*4476T>C
ENST00000697923.1:n.4931T>C
ENST00000223642.3:c.4486T>C MANE Select	ENSP00000223642.1:p.Tyr1496His
ENST00000223642.2:c.4486T>C	ENSP00000223642.1:p.Tyr1496His
ENST00000480188.1:n.19T>C
NM_001735.2:c.4486T>C , LRG_28t1:c.4486T>C	NP_001726.2:p.Tyr1496His
XM_011518980.1:c.4501T>C	XP_011517282.1:p.Tyr1501His
NM_001317163.1:c.4504T>C	NP_001304092.1:p.Tyr1502His
NM_001317163.2:c.4504T>C	NP_001304092.1:p.Tyr1502His
NM_001735.3:c.4486T>C MANE Select	NP_001726.2:p.Tyr1496His