Canonical Allele Identifier: CA497362082

Gene: CYBA

Linked Data

• MyVariant Identifiers: chr16:g.88709794G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643386G>C , CM000678.2:g.88643386G>C	GRCh38
NC_000016.9:g.88709794G>C , CM000678.1:g.88709794G>C	GRCh37
NC_000016.8:g.87237295G>C	NCBI36
NG_007291.1:g.12664C>G , LRG_52:g.12664C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.471C>G	ENSP00000512446.1:p.Val157=
ENST00000696157.1:c.*772C>G	ENSP00000512447.1:n.*772C>G
ENST00000696158.1:c.*809C>G	ENSP00000512448.1:n.*809C>G
ENST00000696159.1:c.*478C>G	ENSP00000512449.1:n.*478C>G
ENST00000696160.1:c.582C>G	ENSP00000512450.1:p.Val194=
ENST00000696161.1:c.685C>G	ENSP00000512451.1:p.Gln229Glu
ENST00000696162.1:c.*1274C>G	ENSP00000512452.1:n.*1274C>G
ENST00000696163.1:c.504C>G	ENSP00000512453.1:p.Val168=
ENST00000261623.8:c.555C>G MANE Select	ENSP00000261623.3:p.Val185=
ENST00000261623.7:c.555C>G	ENSP00000261623.3:p.Val185=
NM_000101.3:c.555C>G	NP_000092.2:p.Val185=
NM_000101.4:c.555C>G MANE Select	NP_000092.2:p.Val185=