Canonical Allele Identifier: CA412972524
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37782136G>T , CM000685.2:g.37782136G>T GRCh38
NC_000023.10:g.37641389G>T , CM000685.1:g.37641389G>T GRCh37
NC_000023.9:g.37526333G>T NCBI36
NG_009065.1:g.7120G>T , LRG_53:g.7120G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.94G>T ENSP00000512461.1:p.Val32Phe
ENST00000696171.1:c.46-1354G>T ENSP00000512462.1:n.46-1354G>T
ENST00000696172.1:c.94G>T ENSP00000512463.1:p.Val32Phe
ENST00000696173.1:n.102G>T
ENST00000378588.5:c.94G>T MANE Select ENSP00000367851.4:p.Val32Phe
ENST00000378588.4:c.94G>T ENSP00000367851.4:p.Val32Phe
ENST00000465127.1:c.171+356136G>T ENSP00000417050.1:n.171+356136G>T
NM_000397.3:c.94G>T , LRG_53t1:c.94G>T NP_000388.2:p.Val32Phe
XM_011543890.1:c.-337G>T XP_011542192.1:n.-337G>T
NM_000397.4:c.94G>T MANE Select NP_000388.2:p.Val32Phe