Canonical Allele Identifier: CA10383680

Gene: CYBB

Linked Data

• dbSNP Id: rs387906485
• ExAC: X:37642853 G / T
• MyVariant Identifiers: chrX:g.37642853G>T (hg19) ; chrX:g.37783600G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783600G>T , CM000685.2:g.37783600G>T	GRCh38
NC_000023.10:g.37642853G>T , CM000685.1:g.37642853G>T	GRCh37
NC_000023.9:g.37527797G>T	NCBI36
NG_009065.1:g.8584G>T , LRG_53:g.8584G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.252G>T	ENSP00000512461.1:p.Ala84=
ENST00000696171.1:c.156G>T	ENSP00000512462.1:p.Ala52=
ENST00000696172.1:c.252G>T	ENSP00000512463.1:p.Ala84=
ENST00000696173.1:n.260G>T
ENST00000378588.5:c.252G>T MANE Select	ENSP00000367851.4:p.Ala84=
ENST00000378588.4:c.252G>T	ENSP00000367851.4:p.Ala84=
ENST00000465127.1:c.171+357600G>T	ENSP00000417050.1:n.171+357600G>T
NM_000397.3:c.252G>T , LRG_53t1:c.252G>T	NP_000388.2:p.Ala84=
XM_011543890.1:c.-179G>T	XP_011542192.1:n.-179G>T
NM_000397.4:c.252G>T MANE Select	NP_000388.2:p.Ala84=