Canonical Allele Identifier: CA2693425771
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37783745-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783745T>G , CM000685.2:g.37783745T>G GRCh38
NC_000023.10:g.37642998T>G , CM000685.1:g.37642998T>G GRCh37
NC_000023.9:g.37527942T>G NCBI36
NG_009065.1:g.8729T>G , LRG_53:g.8729T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.252+145T>G ENSP00000512461.1:n.252+145T>G
ENST00000696171.1:c.156+145T>G ENSP00000512462.1:n.156+145T>G
ENST00000696172.1:c.252+145T>G ENSP00000512463.1:n.252+145T>G
ENST00000696173.1:n.260+145T>G
ENST00000378588.5:c.252+145T>G MANE Select ENSP00000367851.4:n.252+145T>G
ENST00000378588.4:c.252+145T>G ENSP00000367851.4:n.252+145T>G
ENST00000465127.1:c.171+357745T>G ENSP00000417050.1:n.171+357745T>G
NM_000397.3:c.252+145T>G , LRG_53t1:c.252+145T>G NP_000388.2:n.252+145T>G
XM_011543890.1:c.-179+145T>G XP_011542192.1:n.-179+145T>G
NM_000397.4:c.252+145T>G MANE Select NP_000388.2:n.252+145T>G