Canonical Allele Identifier: CA397056794

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643436-C-A
• MyVariant Identifiers: chr16:g.88709844C>A (hg19) ; chr16:g.88643436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643436C>A , CM000678.2:g.88643436C>A	GRCh38
NC_000016.9:g.88709844C>A , CM000678.1:g.88709844C>A	GRCh37
NC_000016.8:g.87237345C>A	NCBI36
NG_007291.1:g.12614G>T , LRG_52:g.12614G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.421G>T	ENSP00000512446.1:p.Glu141Ter
ENST00000696157.1:c.*722G>T	ENSP00000512447.1:n.*722G>T
ENST00000696158.1:c.*759G>T	ENSP00000512448.1:n.*759G>T
ENST00000696159.1:c.*428G>T	ENSP00000512449.1:n.*428G>T
ENST00000696160.1:c.532G>T	ENSP00000512450.1:p.Glu178Ter
ENST00000696161.1:c.635G>T	ENSP00000512451.1:p.Arg212Leu
ENST00000696162.1:c.*1224G>T	ENSP00000512452.1:n.*1224G>T
ENST00000696163.1:c.454G>T	ENSP00000512453.1:p.Glu152Ter
ENST00000261623.8:c.505G>T MANE Select	ENSP00000261623.3:p.Glu169Ter
ENST00000261623.7:c.505G>T	ENSP00000261623.3:p.Glu169Ter
NM_000101.3:c.505G>T	NP_000092.2:p.Glu169Ter
NM_000101.4:c.505G>T MANE Select	NP_000092.2:p.Glu169Ter