Canonical Allele Identifier: CA397056379

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643390-T-G
• MyVariant Identifiers: chr16:g.88709798T>G (hg19) ; chr16:g.88643390T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643390T>G , CM000678.2:g.88643390T>G	GRCh38
NC_000016.9:g.88709798T>G , CM000678.1:g.88709798T>G	GRCh37
NC_000016.8:g.87237299T>G	NCBI36
NG_007291.1:g.12660A>C , LRG_52:g.12660A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.467A>C	ENSP00000512446.1:p.Gln156Pro
ENST00000696157.1:c.*768A>C	ENSP00000512447.1:n.*768A>C
ENST00000696158.1:c.*805A>C	ENSP00000512448.1:n.*805A>C
ENST00000696159.1:c.*474A>C	ENSP00000512449.1:n.*474A>C
ENST00000696160.1:c.578A>C	ENSP00000512450.1:p.Gln193Pro
ENST00000696161.1:c.681A>C	ENSP00000512451.1:p.Pro227=
ENST00000696162.1:c.*1270A>C	ENSP00000512452.1:n.*1270A>C
ENST00000696163.1:c.500A>C	ENSP00000512453.1:p.Gln167Pro
ENST00000261623.8:c.551A>C MANE Select	ENSP00000261623.3:p.Gln184Pro
ENST00000261623.7:c.551A>C	ENSP00000261623.3:p.Gln184Pro
NM_000101.3:c.551A>C	NP_000092.2:p.Gln184Pro
NM_000101.4:c.551A>C MANE Select	NP_000092.2:p.Gln184Pro