Canonical Allele Identifier: CA8228208

Gene: CYBA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643557G>A , CM000678.2:g.88643557G>A	GRCh38
NC_000016.9:g.88709965G>A , CM000678.1:g.88709965G>A	GRCh37
NC_000016.8:g.87237466G>A	NCBI36
NG_007291.1:g.12493C>T , LRG_52:g.12493C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000101.4:c.384C>T MANE Select	NP_000092.2:p.Gly128=
ENST00000261623.8:c.384C>T MANE Select	ENSP00000261623.3:p.Gly128=
NM_000101.3:c.384C>T	NP_000092.2:p.Gly128=
ENST00000261623.7:c.384C>T	ENSP00000261623.3:p.Gly128=
ENST00000565588.5:c.178C>T
ENST00000565588.6:c.394C>T	ENSP00000455537.2:p.Arg132Ter
ENST00000566229.1:c.373C>T	ENSP00000457060.1:p.Arg125Ter
ENST00000566534.5:n.963C>T
ENST00000696156.1:c.300C>T	ENSP00000512446.1:p.Gly100=
ENST00000696157.1:c.*601C>T	ENSP00000512447.1:n.*601C>T
ENST00000696158.1:c.*638C>T	ENSP00000512448.1:n.*638C>T
ENST00000696159.1:c.*307C>T	ENSP00000512449.1:n.*307C>T
ENST00000696160.1:c.411C>T	ENSP00000512450.1:p.Gly137=
ENST00000696161.1:c.514C>T	ENSP00000512451.1:p.Arg172Ter
ENST00000696162.1:c.*1103C>T	ENSP00000512452.1:n.*1103C>T
ENST00000696163.1:c.333C>T	ENSP00000512453.1:p.Gly111=