Canonical Allele Identifier: CA2634847685

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643310-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643310T>C , CM000678.2:g.88643310T>C	GRCh38
NC_000016.9:g.88709718T>C , CM000678.1:g.88709718T>C	GRCh37
NC_000016.8:g.87237219T>C	NCBI36
NG_007291.1:g.12740A>G , LRG_52:g.12740A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.*43A>G	ENSP00000512446.1:n.*43A>G
ENST00000696157.1:c.*848A>G	ENSP00000512447.1:n.*848A>G
ENST00000696158.1:c.*885A>G	ENSP00000512448.1:n.*885A>G
ENST00000696159.1:c.*554A>G	ENSP00000512449.1:n.*554A>G
ENST00000696160.1:c.*43A>G	ENSP00000512450.1:n.*43A>G
ENST00000696161.1:c.761A>G	ENSP00000512451.1:p.Gln254Arg
ENST00000696162.1:c.*1350A>G	ENSP00000512452.1:n.*1350A>G
ENST00000696163.1:c.*43A>G	ENSP00000512453.1:n.*43A>G
ENST00000261623.8:c.*43A>G MANE Select	ENSP00000261623.3:n.*43A>G
ENST00000261623.7:c.*43A>G	ENSP00000261623.3:n.*43A>G
NM_000101.3:c.*43A>G	NP_000092.2:n.*43A>G
NM_000101.4:c.*43A>G MANE Select	NP_000092.2:n.*43A>G