Canonical Allele Identifier: CA412975741
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795952A>T , CM000685.2:g.37795952A>T GRCh38
NC_000023.10:g.37655205A>T , CM000685.1:g.37655205A>T GRCh37
NC_000023.9:g.37540145A>T NCBI36
NG_009065.1:g.20932A>T , LRG_53:g.20932A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.339A>T ENSP00000512461.1:p.Glu113Asp
ENST00000696171.1:c.389A>T ENSP00000512462.1:p.Asn130Ile
ENST00000696172.1:c.338-3003A>T ENSP00000512463.1:n.338-3003A>T
ENST00000378588.5:c.485A>T MANE Select ENSP00000367851.4:p.Asn162Ile
ENST00000378588.4:c.485A>T ENSP00000367851.4:p.Asn162Ile
ENST00000465127.1:c.171+369952A>T ENSP00000417050.1:n.171+369952A>T
NM_000397.3:c.485A>T , LRG_53t1:c.485A>T NP_000388.2:p.Asn162Ile
XM_011543890.1:c.179A>T XP_011542192.1:p.Asn60Ile
NM_000397.4:c.485A>T MANE Select NP_000388.2:p.Asn162Ile