Canonical Allele Identifier: CA412977599

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804132T>C , CM000685.2:g.37804132T>C	GRCh38
NC_000023.10:g.37663385T>C , CM000685.1:g.37663385T>C	GRCh37
NC_000023.9:g.37548329T>C	NCBI36
NG_009065.1:g.29116T>C , LRG_53:g.29116T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000397.4:c.1151+2T>C MANE Select	NP_000388.2:n.1151+2T>C
ENST00000378588.5:c.1151+2T>C MANE Select	ENSP00000367851.4:n.1151+2T>C
NM_000397.3:c.1151+2T>C , LRG_53t1:c.1151+2T>C	NP_000388.2:n.1151+2T>C
ENST00000378588.4:c.1151+2T>C	ENSP00000367851.4:n.1151+2T>C
ENST00000465127.1:c.171+378132T>C	ENSP00000417050.1:n.171+378132T>C
ENST00000696170.1:c.*660+2T>C	ENSP00000512461.1:n.*660+2T>C
ENST00000696171.1:c.1055+2T>C	ENSP00000512462.1:n.1055+2T>C
XM_011543890.1:c.845+2T>C	XP_011542192.1:n.845+2T>C