Canonical Allele Identifier: CA2634847720

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643331-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643331G>A , CM000678.2:g.88643331G>A	GRCh38
NC_000016.9:g.88709739G>A , CM000678.1:g.88709739G>A	GRCh37
NC_000016.8:g.87237240G>A	NCBI36
NG_007291.1:g.12719C>T , LRG_52:g.12719C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696156.1:c.*22C>T	ENSP00000512446.1:n.*22C>T
ENST00000696157.1:c.*827C>T	ENSP00000512447.1:n.*827C>T
ENST00000696158.1:c.*864C>T	ENSP00000512448.1:n.*864C>T
ENST00000696159.1:c.*533C>T	ENSP00000512449.1:n.*533C>T
ENST00000696160.1:c.*22C>T	ENSP00000512450.1:n.*22C>T
ENST00000696161.1:c.740C>T	ENSP00000512451.1:p.Pro247Leu
ENST00000696162.1:c.*1329C>T	ENSP00000512452.1:n.*1329C>T
ENST00000696163.1:c.*22C>T	ENSP00000512453.1:n.*22C>T
ENST00000261623.8:c.*22C>T MANE Select	ENSP00000261623.3:n.*22C>T
ENST00000261623.7:c.*22C>T	ENSP00000261623.3:n.*22C>T
NM_000101.3:c.*22C>T	NP_000092.2:n.*22C>T
NM_000101.4:c.*22C>T MANE Select	NP_000092.2:n.*22C>T