Canonical Allele Identifier: CA8228153

Gene: CYBA

Linked Data

• dbSNP Id: rs776276877
• ExAC: 16:88709728 T / A
• gnomAD v4: 16-88643320-T-A
• MyVariant Identifiers: chr16:g.88709728T>A (hg19) ; chr16:g.88643320T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643320T>A , CM000678.2:g.88643320T>A	GRCh38
NC_000016.9:g.88709728T>A , CM000678.1:g.88709728T>A	GRCh37
NC_000016.8:g.87237229T>A	NCBI36
NG_007291.1:g.12730A>T , LRG_52:g.12730A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.*33A>T	ENSP00000512446.1:n.*33A>T
ENST00000696157.1:c.*838A>T	ENSP00000512447.1:n.*838A>T
ENST00000696158.1:c.*875A>T	ENSP00000512448.1:n.*875A>T
ENST00000696159.1:c.*544A>T	ENSP00000512449.1:n.*544A>T
ENST00000696160.1:c.*33A>T	ENSP00000512450.1:n.*33A>T
ENST00000696161.1:c.751A>T	ENSP00000512451.1:p.Thr251Ser
ENST00000696162.1:c.*1340A>T	ENSP00000512452.1:n.*1340A>T
ENST00000696163.1:c.*33A>T	ENSP00000512453.1:n.*33A>T
ENST00000261623.8:c.*33A>T MANE Select	ENSP00000261623.3:n.*33A>T
ENST00000261623.7:c.*33A>T	ENSP00000261623.3:n.*33A>T
NM_000101.3:c.*33A>T	NP_000092.2:n.*33A>T
NM_000101.4:c.*33A>T MANE Select	NP_000092.2:n.*33A>T