Canonical Allele Identifier: CA115456

Gene: CYBA

Linked Data

• ClinVar Variation Id: 2263
• ClinVar RCV Id: RCV000002351 ; RCV000249071 ; RCV000989646 ; RCV000736011 ; RCV001826406 ; RCV001723534
• dbSNP Id: rs4673
• ExAC: 16:88713236 A / G
• gnomAD v2: 16-88713236-A-G
• gnomAD v3: 16-88646828-A-G
• gnomAD v4: 16-88646828-A-G
• MyVariant Identifiers: chr16:g.88713236A>G (hg19) ; chr16:g.88646828A>G (hg38)
• PubMed: PMID:3368442 ; PMID:9445163 ; PMID:10440830 ; PMID:19388116

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88646828A>G , CM000678.2:g.88646828A>G	GRCh38
NC_000016.9:g.88713236A>G , CM000678.1:g.88713236A>G	GRCh37
NC_000016.8:g.87240737A>G	NCBI36
NG_007291.1:g.9222T>C , LRG_52:g.9222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565588.6:c.214T>C	ENSP00000455537.2:p.Tyr72His
ENST00000696156.1:c.203+273T>C	ENSP00000512446.1:n.203+273T>C
ENST00000696157.1:c.214T>C	ENSP00000512447.1:p.Tyr72His
ENST00000696158.1:c.214T>C	ENSP00000512448.1:p.Tyr72His
ENST00000696159.1:c.214T>C	ENSP00000512449.1:p.Tyr72His
ENST00000696160.1:c.214T>C	ENSP00000512450.1:p.Tyr72His
ENST00000696161.1:c.344T>C	ENSP00000512451.1:p.Val115Ala
ENST00000696162.1:c.214T>C	ENSP00000512452.1:p.Tyr72His
ENST00000696163.1:c.204-41T>C	ENSP00000512453.1:n.204-41T>C
ENST00000261623.8:c.214T>C MANE Select	ENSP00000261623.3:p.Tyr72His
ENST00000261623.7:c.214T>C	ENSP00000261623.3:p.Tyr72His
ENST00000562209.1:n.494T>C
ENST00000563526.5:n.189T>C
ENST00000566229.1:c.203T>C	ENSP00000457060.1:p.Val68Ala
ENST00000566534.5:n.236T>C
ENST00000567174.5:c.214T>C	ENSP00000454951.1:p.Tyr72His
ENST00000568278.1:c.214T>C	ENSP00000455506.1:p.Tyr72His
ENST00000569359.5:c.214T>C	ENSP00000456079.1:p.Tyr72His
NM_000101.3:c.214T>C	NP_000092.2:p.Tyr72His
XM_011522905.1:c.214T>C	XP_011521207.1:p.Tyr72His
XM_011522905.3:c.214T>C	XP_011521207.1:p.Tyr72His
NM_000101.4:c.214T>C MANE Select	NP_000092.2:p.Tyr72His