Canonical Allele Identifier: CA412977843

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37664370G>T (hg19) ; chrX:g.37805117G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37805117G>T , CM000685.2:g.37805117G>T	GRCh38
NC_000023.10:g.37664370G>T , CM000685.1:g.37664370G>T	GRCh37
NC_000023.9:g.37549314G>T	NCBI36
NG_009065.1:g.30101G>T , LRG_53:g.30101G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*772G>T	ENSP00000512461.1:n.*772G>T
ENST00000696171.1:c.1167G>T	ENSP00000512462.1:p.Lys389Asn
ENST00000378588.5:c.1263G>T MANE Select	ENSP00000367851.4:p.Lys421Asn
ENST00000378588.4:c.1263G>T	ENSP00000367851.4:p.Lys421Asn
ENST00000465127.1:c.171+379117G>T	ENSP00000417050.1:n.171+379117G>T
NM_000397.3:c.1263G>T , LRG_53t1:c.1263G>T	NP_000388.2:p.Lys421Asn
XM_011543890.1:c.957G>T	XP_011542192.1:p.Lys319Asn
NM_000397.4:c.1263G>T MANE Select	NP_000388.2:p.Lys421Asn