Canonical Allele Identifier: CA8228168

Gene: CYBA

Linked Data

• ClinVar Variation Id: 1437452
• ClinVar RCV Id: RCV001934013 ; RCV002562117
• dbSNP Id: rs777676283
• ExAC: 16:88709775 C / T
• gnomAD v2: 16-88709775-C-T
• gnomAD v3: 16-88643367-C-T
• gnomAD v4: 16-88643367-C-T
• MyVariant Identifiers: chr16:g.88709775C>T (hg19) ; chr16:g.88643367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643367C>T , CM000678.2:g.88643367C>T	GRCh38
NC_000016.9:g.88709775C>T , CM000678.1:g.88709775C>T	GRCh37
NC_000016.8:g.87237276C>T	NCBI36
NG_007291.1:g.12683G>A , LRG_52:g.12683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.490G>A	ENSP00000512446.1:p.Asp164Asn
ENST00000696157.1:c.*791G>A	ENSP00000512447.1:n.*791G>A
ENST00000696158.1:c.*828G>A	ENSP00000512448.1:n.*828G>A
ENST00000696159.1:c.*497G>A	ENSP00000512449.1:n.*497G>A
ENST00000696160.1:c.601G>A	ENSP00000512450.1:p.Asp201Asn
ENST00000696161.1:c.704G>A	ENSP00000512451.1:p.Arg235Gln
ENST00000696162.1:c.*1293G>A	ENSP00000512452.1:n.*1293G>A
ENST00000696163.1:c.523G>A	ENSP00000512453.1:p.Asp175Asn
ENST00000261623.8:c.574G>A MANE Select	ENSP00000261623.3:p.Asp192Asn
ENST00000261623.7:c.574G>A	ENSP00000261623.3:p.Asp192Asn
NM_000101.3:c.574G>A	NP_000092.2:p.Asp192Asn
NM_000101.4:c.574G>A MANE Select	NP_000092.2:p.Asp192Asn