Canonical Allele Identifier: CA875433

Gene: C8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56912611A>T , CM000663.2:g.56912611A>T	GRCh38
NC_000001.10:g.57378284A>T , CM000663.1:g.57378284A>T	GRCh37
NC_000001.9:g.57150872A>T	NCBI36
NG_012049.1:g.62842A>T , LRG_139:g.62842A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000562.3:c.1589A>T MANE Select	NP_000553.1:p.Gln530Leu
ENST00000361249.4:c.1589A>T MANE Select	ENSP00000354458.3:p.Gln530Leu
NM_000562.2:c.1589A>T , LRG_139t1:c.1589A>T	NP_000553.1:p.Gln530Leu
ENST00000361249.3:c.1589A>T	ENSP00000354458.3:p.Gln530Leu
ENST00000695677.1:c.1538A>T	ENSP00000512097.1:p.Gln513Leu
ENST00000695678.1:c.1589A>T	ENSP00000512098.1:p.Gln530Leu
ENST00000695679.1:c.*838A>T	ENSP00000512099.1:n.*838A>T
ENST00000695681.1:c.1520A>T	ENSP00000512100.1:p.Gln507Leu
ENST00000695687.1:n.767A>T
ENST00000695688.1:n.279A>T