Canonical Allele Identifier: CA403642150

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713251C>A (hg19) ; chr19:g.6713240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713240C>A , CM000681.2:g.6713240C>A	GRCh38
NC_000019.9:g.6713251C>A , CM000681.1:g.6713251C>A	GRCh37
NC_000019.8:g.6664251C>A	NCBI36
NG_009557.1:g.12412G>T , LRG_27:g.12412G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.829G>T	ENSP00000512083.1:p.Asp277Tyr
ENST00000695654.1:c.76G>T	ENSP00000512085.1:p.Asp26Tyr
ENST00000695692.1:n.276G>T
ENST00000245907.11:c.952G>T MANE Select	ENSP00000245907.4:p.Asp318Tyr
ENST00000245907.10:c.952G>T	ENSP00000245907.4:p.Asp318Tyr
ENST00000594270.5:n.76G>T
ENST00000595577.1:n.456G>T
ENST00000597442.5:n.202G>T
NM_000064.3:c.952G>T	NP_000055.2:p.Asp318Tyr
NM_000064.4:c.952G>T MANE Select	NP_000055.2:p.Asp318Tyr