Canonical Allele Identifier: CA497362094

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643401-C-A
• MyVariant Identifiers: chr16:g.88709809C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643401C>A , CM000678.2:g.88643401C>A	GRCh38
NC_000016.9:g.88709809C>A , CM000678.1:g.88709809C>A	GRCh37
NC_000016.8:g.87237310C>A	NCBI36
NG_007291.1:g.12649G>T , LRG_52:g.12649G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.456G>T	ENSP00000512446.1:p.Pro152=
ENST00000696157.1:c.*757G>T	ENSP00000512447.1:n.*757G>T
ENST00000696158.1:c.*794G>T	ENSP00000512448.1:n.*794G>T
ENST00000696159.1:c.*463G>T	ENSP00000512449.1:n.*463G>T
ENST00000696160.1:c.567G>T	ENSP00000512450.1:p.Pro189=
ENST00000696161.1:c.670G>T	ENSP00000512451.1:p.Gly224Trp
ENST00000696162.1:c.*1259G>T	ENSP00000512452.1:n.*1259G>T
ENST00000696163.1:c.489G>T	ENSP00000512453.1:p.Pro163=
ENST00000261623.8:c.540G>T MANE Select	ENSP00000261623.3:p.Pro180=
ENST00000261623.7:c.540G>T	ENSP00000261623.3:p.Pro180=
NM_000101.3:c.540G>T	NP_000092.2:p.Pro180=
NM_000101.4:c.540G>T MANE Select	NP_000092.2:p.Pro180=