Canonical Allele Identifier: CA2838245609

Gene: CYBA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643342C>G , CM000678.2:g.88643342C>G	GRCh38
NC_000016.9:g.88709750C>G , CM000678.1:g.88709750C>G	GRCh37
NC_000016.8:g.87237251C>G	NCBI36
NG_007291.1:g.12708G>C , LRG_52:g.12708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.*11G>C	ENSP00000512446.1:n.*11G>C
ENST00000696157.1:c.*816G>C	ENSP00000512447.1:n.*816G>C
ENST00000696158.1:c.*853G>C	ENSP00000512448.1:n.*853G>C
ENST00000696159.1:c.*522G>C	ENSP00000512449.1:n.*522G>C
ENST00000696160.1:c.*11G>C	ENSP00000512450.1:n.*11G>C
ENST00000696161.1:c.729G>C	ENSP00000512451.1:p.Arg243=
ENST00000696162.1:c.*1318G>C	ENSP00000512452.1:n.*1318G>C
ENST00000696163.1:c.*11G>C	ENSP00000512453.1:n.*11G>C
ENST00000261623.8:c.*11G>C MANE Select	ENSP00000261623.3:n.*11G>C
ENST00000261623.7:c.*11G>C	ENSP00000261623.3:n.*11G>C
NM_000101.3:c.*11G>C	NP_000092.2:n.*11G>C
NM_000101.4:c.*11G>C MANE Select	NP_000092.2:n.*11G>C