Canonical Allele Identifier: CA340512264

Gene: C8A

Genomic Alleles

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

Transcript Alleles

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