Canonical Allele Identifier: CA412975847

Gene: CYBB

Linked Data

• MyVariant Identifiers: chrX:g.37655231G>T (hg19) ; chrX:g.37795978G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37795978G>T , CM000685.2:g.37795978G>T	GRCh38
NC_000023.10:g.37655231G>T , CM000685.1:g.37655231G>T	GRCh37
NC_000023.9:g.37540171G>T	NCBI36
NG_009065.1:g.20958G>T , LRG_53:g.20958G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*20G>T	ENSP00000512461.1:n.*20G>T
ENST00000696171.1:c.415G>T	ENSP00000512462.1:p.Val139Leu
ENST00000696172.1:c.338-2977G>T	ENSP00000512463.1:n.338-2977G>T
ENST00000378588.5:c.511G>T MANE Select	ENSP00000367851.4:p.Val171Leu
ENST00000378588.4:c.511G>T	ENSP00000367851.4:p.Val171Leu
ENST00000465127.1:c.171+369978G>T	ENSP00000417050.1:n.171+369978G>T
NM_000397.3:c.511G>T , LRG_53t1:c.511G>T	NP_000388.2:p.Val171Leu
XM_011543890.1:c.205G>T	XP_011542192.1:p.Val69Leu
NM_000397.4:c.511G>T MANE Select	NP_000388.2:p.Val171Leu