Canonical Allele Identifier: CA412976144
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796052A>T , CM000685.2:g.37796052A>T GRCh38
NC_000023.10:g.37655305A>T , CM000685.1:g.37655305A>T GRCh37
NC_000023.9:g.37540245A>T NCBI36
NG_009065.1:g.21032A>T , LRG_53:g.21032A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*94A>T ENSP00000512461.1:n.*94A>T
ENST00000696171.1:c.489A>T ENSP00000512462.1:p.Lys163Asn
ENST00000696172.1:c.338-2903A>T ENSP00000512463.1:n.338-2903A>T
ENST00000378588.5:c.585A>T MANE Select ENSP00000367851.4:p.Lys195Asn
ENST00000378588.4:c.585A>T ENSP00000367851.4:p.Lys195Asn
ENST00000465127.1:c.171+370052A>T ENSP00000417050.1:n.171+370052A>T
NM_000397.3:c.585A>T , LRG_53t1:c.585A>T NP_000388.2:p.Lys195Asn
XM_011543890.1:c.279A>T XP_011542192.1:p.Lys93Asn
NM_000397.4:c.585A>T MANE Select NP_000388.2:p.Lys195Asn