Canonical Allele Identifier: CA2634847687

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643311-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643311G>T , CM000678.2:g.88643311G>T	GRCh38
NC_000016.9:g.88709719G>T , CM000678.1:g.88709719G>T	GRCh37
NC_000016.8:g.87237220G>T	NCBI36
NG_007291.1:g.12739C>A , LRG_52:g.12739C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.*42C>A	ENSP00000512446.1:n.*42C>A
ENST00000696157.1:c.*847C>A	ENSP00000512447.1:n.*847C>A
ENST00000696158.1:c.*884C>A	ENSP00000512448.1:n.*884C>A
ENST00000696159.1:c.*553C>A	ENSP00000512449.1:n.*553C>A
ENST00000696160.1:c.*42C>A	ENSP00000512450.1:n.*42C>A
ENST00000696161.1:c.760C>A	ENSP00000512451.1:p.Gln254Lys
ENST00000696162.1:c.*1349C>A	ENSP00000512452.1:n.*1349C>A
ENST00000696163.1:c.*42C>A	ENSP00000512453.1:n.*42C>A
ENST00000261623.8:c.*42C>A MANE Select	ENSP00000261623.3:n.*42C>A
ENST00000261623.7:c.*42C>A	ENSP00000261623.3:n.*42C>A
NM_000101.3:c.*42C>A	NP_000092.2:n.*42C>A
NM_000101.4:c.*42C>A MANE Select	NP_000092.2:n.*42C>A