Canonical Allele Identifier: CA115452

Gene: CYBA

Linked Data

• ClinVar Variation Id: 2260
• ClinVar RCV Id: RCV000002348 ; RCV000208600
• dbSNP Id: rs104894515
• gnomAD v2: 16-88709882-G-T
• gnomAD v4: 16-88643474-G-T
• MyVariant Identifiers: chr16:g.88709882G>T (hg19) ; chr16:g.88643474G>T (hg38)
• PubMed: PMID:1763037 ; PMID:20167518 ; PMID:22876374

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643474G>T , CM000678.2:g.88643474G>T	GRCh38
NC_000016.9:g.88709882G>T , CM000678.1:g.88709882G>T	GRCh37
NC_000016.8:g.87237383G>T	NCBI36
NG_007291.1:g.12576C>A , LRG_52:g.12576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.383C>A	ENSP00000512446.1:p.Pro128Gln
ENST00000696157.1:c.*684C>A	ENSP00000512447.1:n.*684C>A
ENST00000696158.1:c.*721C>A	ENSP00000512448.1:n.*721C>A
ENST00000696159.1:c.*390C>A	ENSP00000512449.1:n.*390C>A
ENST00000696160.1:c.494C>A	ENSP00000512450.1:p.Pro165Gln
ENST00000696161.1:c.597C>A	ENSP00000512451.1:p.Pro199=
ENST00000696162.1:c.*1186C>A	ENSP00000512452.1:n.*1186C>A
ENST00000696163.1:c.416C>A	ENSP00000512453.1:p.Pro139Gln
ENST00000261623.8:c.467C>A MANE Select	ENSP00000261623.3:p.Pro156Gln
ENST00000261623.7:c.467C>A	ENSP00000261623.3:p.Pro156Gln
NM_000101.3:c.467C>A	NP_000092.2:p.Pro156Gln
NM_000101.4:c.467C>A MANE Select	NP_000092.2:p.Pro156Gln