Canonical Allele Identifier: CA412975878
Gene: CYBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795988T>C , CM000685.2:g.37795988T>C GRCh38
NC_000023.10:g.37655241T>C , CM000685.1:g.37655241T>C GRCh37
NC_000023.9:g.37540181T>C NCBI36
NG_009065.1:g.20968T>C , LRG_53:g.20968T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*30T>C ENSP00000512461.1:n.*30T>C
ENST00000696171.1:c.425T>C ENSP00000512462.1:p.Leu142Ser
ENST00000696172.1:c.338-2967T>C ENSP00000512463.1:n.338-2967T>C
ENST00000378588.5:c.521T>C MANE Select ENSP00000367851.4:p.Leu174Ser
ENST00000378588.4:c.521T>C ENSP00000367851.4:p.Leu174Ser
ENST00000465127.1:c.171+369988T>C ENSP00000417050.1:n.171+369988T>C
NM_000397.3:c.521T>C , LRG_53t1:c.521T>C NP_000388.2:p.Leu174Ser
XM_011543890.1:c.215T>C XP_011542192.1:p.Leu72Ser
NM_000397.4:c.521T>C MANE Select NP_000388.2:p.Leu174Ser