Canonical Allele Identifier: CA412972886

Gene: CYBB

Linked Data

• gnomAD v4: X-37783583-C-T
• MyVariant Identifiers: chrX:g.37642836C>T (hg19) ; chrX:g.37783583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783583C>T , CM000685.2:g.37783583C>T	GRCh38
NC_000023.10:g.37642836C>T , CM000685.1:g.37642836C>T	GRCh37
NC_000023.9:g.37527780C>T	NCBI36
NG_009065.1:g.8567C>T , LRG_53:g.8567C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.235C>T	ENSP00000512461.1:p.Leu79Phe
ENST00000696171.1:c.139C>T	ENSP00000512462.1:p.Leu47Phe
ENST00000696172.1:c.235C>T	ENSP00000512463.1:p.Leu79Phe
ENST00000696173.1:n.243C>T
ENST00000378588.5:c.235C>T MANE Select	ENSP00000367851.4:p.Leu79Phe
ENST00000378588.4:c.235C>T	ENSP00000367851.4:p.Leu79Phe
ENST00000465127.1:c.171+357583C>T	ENSP00000417050.1:n.171+357583C>T
NM_000397.3:c.235C>T , LRG_53t1:c.235C>T	NP_000388.2:p.Leu79Phe
XM_011543890.1:c.-196C>T	XP_011542192.1:n.-196C>T
NM_000397.4:c.235C>T MANE Select	NP_000388.2:p.Leu79Phe