Canonical Allele Identifier: CA412972919
Gene: CYBB HGNC NCBI

Linked Data

gnomAD v4: X-37783598-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783598G>T , CM000685.2:g.37783598G>T GRCh38
NC_000023.10:g.37642851G>T , CM000685.1:g.37642851G>T GRCh37
NC_000023.9:g.37527795G>T NCBI36
NG_009065.1:g.8582G>T , LRG_53:g.8582G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.250G>T ENSP00000512461.1:p.Ala84Ser
ENST00000696171.1:c.154G>T ENSP00000512462.1:p.Ala52Ser
ENST00000696172.1:c.250G>T ENSP00000512463.1:p.Ala84Ser
ENST00000696173.1:n.258G>T
ENST00000378588.5:c.250G>T MANE Select ENSP00000367851.4:p.Ala84Ser
ENST00000378588.4:c.250G>T ENSP00000367851.4:p.Ala84Ser
ENST00000465127.1:c.171+357598G>T ENSP00000417050.1:n.171+357598G>T
NM_000397.3:c.250G>T , LRG_53t1:c.250G>T NP_000388.2:p.Ala84Ser
XM_011543890.1:c.-181G>T XP_011542192.1:n.-181G>T
NM_000397.4:c.250G>T MANE Select NP_000388.2:p.Ala84Ser