Canonical Allele Identifier: CA497362123

Gene: CYBA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643449G>A , CM000678.2:g.88643449G>A	GRCh38
NC_000016.9:g.88709857G>A , CM000678.1:g.88709857G>A	GRCh37
NC_000016.8:g.87237358G>A	NCBI36
NG_007291.1:g.12601C>T , LRG_52:g.12601C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000101.4:c.492C>T MANE Select	NP_000092.2:p.Arg164=
ENST00000261623.8:c.492C>T MANE Select	ENSP00000261623.3:p.Arg164=
NM_000101.3:c.492C>T	NP_000092.2:p.Arg164=
ENST00000261623.7:c.492C>T	ENSP00000261623.3:p.Arg164=
ENST00000696156.1:c.408C>T	ENSP00000512446.1:p.Arg136=
ENST00000696157.1:c.*709C>T	ENSP00000512447.1:n.*709C>T
ENST00000696158.1:c.*746C>T	ENSP00000512448.1:n.*746C>T
ENST00000696159.1:c.*415C>T	ENSP00000512449.1:n.*415C>T
ENST00000696160.1:c.519C>T	ENSP00000512450.1:p.Arg173=
ENST00000696161.1:c.622C>T	ENSP00000512451.1:p.Gln208Ter
ENST00000696162.1:c.*1211C>T	ENSP00000512452.1:n.*1211C>T
ENST00000696163.1:c.441C>T	ENSP00000512453.1:p.Arg147=