Canonical Allele Identifier: CA397056208

Gene: CYBA

Linked Data

• MyVariant Identifiers: chr16:g.88709780A>T (hg19) ; chr16:g.88643372A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643372A>T , CM000678.2:g.88643372A>T	GRCh38
NC_000016.9:g.88709780A>T , CM000678.1:g.88709780A>T	GRCh37
NC_000016.8:g.87237281A>T	NCBI36
NG_007291.1:g.12678T>A , LRG_52:g.12678T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.485T>A	ENSP00000512446.1:p.Val162Glu
ENST00000696157.1:c.*786T>A	ENSP00000512447.1:n.*786T>A
ENST00000696158.1:c.*823T>A	ENSP00000512448.1:n.*823T>A
ENST00000696159.1:c.*492T>A	ENSP00000512449.1:n.*492T>A
ENST00000696160.1:c.596T>A	ENSP00000512450.1:p.Val199Glu
ENST00000696161.1:c.699T>A	ENSP00000512451.1:p.Gly233=
ENST00000696162.1:c.*1288T>A	ENSP00000512452.1:n.*1288T>A
ENST00000696163.1:c.518T>A	ENSP00000512453.1:p.Val173Glu
ENST00000261623.8:c.569T>A MANE Select	ENSP00000261623.3:p.Val190Glu
ENST00000261623.7:c.569T>A	ENSP00000261623.3:p.Val190Glu
NM_000101.3:c.569T>A	NP_000092.2:p.Val190Glu
NM_000101.4:c.569T>A MANE Select	NP_000092.2:p.Val190Glu