Canonical Allele Identifier: CA2511678984

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643335-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643335G>T , CM000678.2:g.88643335G>T	GRCh38
NC_000016.9:g.88709743G>T , CM000678.1:g.88709743G>T	GRCh37
NC_000016.8:g.87237244G>T	NCBI36
NG_007291.1:g.12715C>A , LRG_52:g.12715C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696156.1:c.*18C>A	ENSP00000512446.1:n.*18C>A
ENST00000696157.1:c.*823C>A	ENSP00000512447.1:n.*823C>A
ENST00000696158.1:c.*860C>A	ENSP00000512448.1:n.*860C>A
ENST00000696159.1:c.*529C>A	ENSP00000512449.1:n.*529C>A
ENST00000696160.1:c.*18C>A	ENSP00000512450.1:n.*18C>A
ENST00000696161.1:c.736C>A	ENSP00000512451.1:p.Pro246Thr
ENST00000696162.1:c.*1325C>A	ENSP00000512452.1:n.*1325C>A
ENST00000696163.1:c.*18C>A	ENSP00000512453.1:n.*18C>A
ENST00000261623.8:c.*18C>A MANE Select	ENSP00000261623.3:n.*18C>A
ENST00000261623.7:c.*18C>A	ENSP00000261623.3:n.*18C>A
NM_000101.3:c.*18C>A	NP_000092.2:n.*18C>A
NM_000101.4:c.*18C>A MANE Select	NP_000092.2:n.*18C>A