Canonical Allele Identifier: CA412972738
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37783514-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783514C>T , CM000685.2:g.37783514C>T GRCh38
NC_000023.10:g.37642767C>T , CM000685.1:g.37642767C>T GRCh37
NC_000023.9:g.37527711C>T NCBI36
NG_009065.1:g.8498C>T , LRG_53:g.8498C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.166C>T ENSP00000512461.1:p.Pro56Ser
ENST00000696171.1:c.70C>T ENSP00000512462.1:p.Pro24Ser
ENST00000696172.1:c.166C>T ENSP00000512463.1:p.Pro56Ser
ENST00000696173.1:n.174C>T
ENST00000378588.5:c.166C>T MANE Select ENSP00000367851.4:p.Pro56Ser
ENST00000378588.4:c.166C>T ENSP00000367851.4:p.Pro56Ser
ENST00000465127.1:c.171+357514C>T ENSP00000417050.1:n.171+357514C>T
NM_000397.3:c.166C>T , LRG_53t1:c.166C>T NP_000388.2:p.Pro56Ser
XM_011543890.1:c.-265C>T XP_011542192.1:n.-265C>T
NM_000397.4:c.166C>T MANE Select NP_000388.2:p.Pro56Ser