Canonical Allele Identifier: CA397056338

Gene: CYBA

Linked Data

• MyVariant Identifiers: chr16:g.88709795A>T (hg19) ; chr16:g.88643387A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643387A>T , CM000678.2:g.88643387A>T	GRCh38
NC_000016.9:g.88709795A>T , CM000678.1:g.88709795A>T	GRCh37
NC_000016.8:g.87237296A>T	NCBI36
NG_007291.1:g.12663T>A , LRG_52:g.12663T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.470T>A	ENSP00000512446.1:p.Val157Asp
ENST00000696157.1:c.*771T>A	ENSP00000512447.1:n.*771T>A
ENST00000696158.1:c.*808T>A	ENSP00000512448.1:n.*808T>A
ENST00000696159.1:c.*477T>A	ENSP00000512449.1:n.*477T>A
ENST00000696160.1:c.581T>A	ENSP00000512450.1:p.Val194Asp
ENST00000696161.1:c.684T>A	ENSP00000512451.1:p.Gly228=
ENST00000696162.1:c.*1273T>A	ENSP00000512452.1:n.*1273T>A
ENST00000696163.1:c.503T>A	ENSP00000512453.1:p.Val168Asp
ENST00000261623.8:c.554T>A MANE Select	ENSP00000261623.3:p.Val185Asp
ENST00000261623.7:c.554T>A	ENSP00000261623.3:p.Val185Asp
NM_000101.3:c.554T>A	NP_000092.2:p.Val185Asp
NM_000101.4:c.554T>A MANE Select	NP_000092.2:p.Val185Asp