Canonical Allele Identifier: CA980332327

Gene: CYBA

Linked Data

• gnomAD v3: 16-88643305-T-G
• gnomAD v4: 16-88643305-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643305T>G , CM000678.2:g.88643305T>G	GRCh38
NC_000016.9:g.88709713T>G , CM000678.1:g.88709713T>G	GRCh37
NC_000016.8:g.87237214T>G	NCBI36
NG_007291.1:g.12745A>C , LRG_52:g.12745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.*48A>C	ENSP00000512446.1:n.*48A>C
ENST00000696157.1:c.*853A>C	ENSP00000512447.1:n.*853A>C
ENST00000696158.1:c.*890A>C	ENSP00000512448.1:n.*890A>C
ENST00000696159.1:c.*559A>C	ENSP00000512449.1:n.*559A>C
ENST00000696160.1:c.*48A>C	ENSP00000512450.1:n.*48A>C
ENST00000696161.1:c.*1A>C	ENSP00000512451.1:n.*1A>C
ENST00000696162.1:c.*1355A>C	ENSP00000512452.1:n.*1355A>C
ENST00000696163.1:c.*48A>C	ENSP00000512453.1:n.*48A>C
ENST00000261623.8:c.*48A>C MANE Select	ENSP00000261623.3:n.*48A>C
ENST00000261623.7:c.*48A>C	ENSP00000261623.3:n.*48A>C
NM_000101.3:c.*48A>C	NP_000092.2:n.*48A>C
NM_000101.4:c.*48A>C MANE Select	NP_000092.2:n.*48A>C