Canonical Allele Identifier: CA340512266

Gene: C8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56906722T>G , CM000663.2:g.56906722T>G	GRCh38
NC_000001.10:g.57372395T>G , CM000663.1:g.57372395T>G	GRCh37
NC_000001.9:g.57144983T>G	NCBI36
NG_012049.1:g.56953T>G , LRG_139:g.56953T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000562.3:c.1152T>G MANE Select	NP_000553.1:p.Tyr384Ter
ENST00000361249.4:c.1152T>G MANE Select	ENSP00000354458.3:p.Tyr384Ter
NM_000562.2:c.1152T>G , LRG_139t1:c.1152T>G	NP_000553.1:p.Tyr384Ter
ENST00000361249.3:c.1152T>G	ENSP00000354458.3:p.Tyr384Ter
ENST00000695677.1:c.1152T>G	ENSP00000512097.1:p.Tyr384Ter
ENST00000695678.1:c.1152T>G	ENSP00000512098.1:p.Tyr384Ter
ENST00000695679.1:c.*401T>G	ENSP00000512099.1:n.*401T>G
ENST00000695681.1:c.1083T>G	ENSP00000512100.1:p.Tyr361Ter
ENST00000695682.1:n.1246T>G
ENST00000695723.1:c.1152T>G	ENSP00000512121.1:p.Tyr384Ter