Canonical Allele Identifier: CA328041089
Community Standard Title: NM_000397.4(CYBB):c.483+978G>A
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37794788G>A , CM000685.2:g.37794788G>A GRCh38
NC_000023.10:g.37654041G>A , CM000685.1:g.37654041G>A GRCh37
NC_000023.9:g.37538981G>A NCBI36
NG_009065.1:g.19768G>A , LRG_53:g.19768G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000397.4:c.483+978G>A MANE Select NP_000388.2:n.483+978G>A
ENST00000378588.5:c.483+978G>A MANE Select ENSP00000367851.4:n.483+978G>A
NM_000397.3:c.483+978G>A , LRG_53t1:c.483+978G>A NP_000388.2:n.483+978G>A
ENST00000378588.4:c.483+978G>A ENSP00000367851.4:n.483+978G>A
ENST00000465127.1:c.171+368788G>A ENSP00000417050.1:n.171+368788G>A
ENST00000696170.1:c.338-1163G>A ENSP00000512461.1:n.338-1163G>A
ENST00000696171.1:c.387+978G>A ENSP00000512462.1:n.387+978G>A
ENST00000696172.1:c.337+2729G>A ENSP00000512463.1:n.337+2729G>A
XM_011543890.1:c.177+978G>A XP_011542192.1:n.177+978G>A