Canonical Allele Identifier: CA412975904

Gene: CYBB

Linked Data

• dbSNP Id: rs2146811660
• gnomAD v4: X-37795994-G-C
• MyVariant Identifiers: chrX:g.37655247G>C (hg19) ; chrX:g.37795994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37795994G>C , CM000685.2:g.37795994G>C	GRCh38
NC_000023.10:g.37655247G>C , CM000685.1:g.37655247G>C	GRCh37
NC_000023.9:g.37540187G>C	NCBI36
NG_009065.1:g.20974G>C , LRG_53:g.20974G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*36G>C	ENSP00000512461.1:n.*36G>C
ENST00000696171.1:c.431G>C	ENSP00000512462.1:p.Gly144Ala
ENST00000696172.1:c.338-2961G>C	ENSP00000512463.1:n.338-2961G>C
ENST00000378588.5:c.527G>C MANE Select	ENSP00000367851.4:p.Gly176Ala
ENST00000378588.4:c.527G>C	ENSP00000367851.4:p.Gly176Ala
ENST00000465127.1:c.171+369994G>C	ENSP00000417050.1:n.171+369994G>C
NM_000397.3:c.527G>C , LRG_53t1:c.527G>C	NP_000388.2:p.Gly176Ala
XM_011543890.1:c.221G>C	XP_011542192.1:p.Gly74Ala
NM_000397.4:c.527G>C MANE Select	NP_000388.2:p.Gly176Ala