Canonical Allele Identifier: CA397056336

Gene: CYBA

Linked Data

• gnomAD v4: 16-88643385-T-C
• MyVariant Identifiers: chr16:g.88709793T>C (hg19) ; chr16:g.88643385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643385T>C , CM000678.2:g.88643385T>C	GRCh38
NC_000016.9:g.88709793T>C , CM000678.1:g.88709793T>C	GRCh37
NC_000016.8:g.87237294T>C	NCBI36
NG_007291.1:g.12665A>G , LRG_52:g.12665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.472A>G	ENSP00000512446.1:p.Asn158Asp
ENST00000696157.1:c.*773A>G	ENSP00000512447.1:n.*773A>G
ENST00000696158.1:c.*810A>G	ENSP00000512448.1:n.*810A>G
ENST00000696159.1:c.*479A>G	ENSP00000512449.1:n.*479A>G
ENST00000696160.1:c.583A>G	ENSP00000512450.1:p.Asn195Asp
ENST00000696161.1:c.686A>G	ENSP00000512451.1:p.Gln229Arg
ENST00000696162.1:c.*1275A>G	ENSP00000512452.1:n.*1275A>G
ENST00000696163.1:c.505A>G	ENSP00000512453.1:p.Asn169Asp
ENST00000261623.8:c.556A>G MANE Select	ENSP00000261623.3:p.Asn186Asp
ENST00000261623.7:c.556A>G	ENSP00000261623.3:p.Asn186Asp
NM_000101.3:c.556A>G	NP_000092.2:p.Asn186Asp
NM_000101.4:c.556A>G MANE Select	NP_000092.2:p.Asn186Asp