Canonical Allele Identifier: CA2580606060

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643329-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643329C>A , CM000678.2:g.88643329C>A	GRCh38
NC_000016.9:g.88709737C>A , CM000678.1:g.88709737C>A	GRCh37
NC_000016.8:g.87237238C>A	NCBI36
NG_007291.1:g.12721G>T , LRG_52:g.12721G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696156.1:c.*24G>T	ENSP00000512446.1:n.*24G>T
ENST00000696157.1:c.*829G>T	ENSP00000512447.1:n.*829G>T
ENST00000696158.1:c.*866G>T	ENSP00000512448.1:n.*866G>T
ENST00000696159.1:c.*535G>T	ENSP00000512449.1:n.*535G>T
ENST00000696160.1:c.*24G>T	ENSP00000512450.1:n.*24G>T
ENST00000696161.1:c.742G>T	ENSP00000512451.1:p.Ala248Ser
ENST00000696162.1:c.*1331G>T	ENSP00000512452.1:n.*1331G>T
ENST00000696163.1:c.*24G>T	ENSP00000512453.1:n.*24G>T
ENST00000261623.8:c.*24G>T MANE Select	ENSP00000261623.3:n.*24G>T
ENST00000261623.7:c.*24G>T	ENSP00000261623.3:n.*24G>T
NM_000101.3:c.*24G>T	NP_000092.2:n.*24G>T
NM_000101.4:c.*24G>T MANE Select	NP_000092.2:n.*24G>T